SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs760094675 | snp | C/T | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23566557 | AGTAGAGACGGGGTT[C/T]CACCATGCTGGCCAG | 56061 |
rs760127391 | in-del | -/C | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564435 | GAATATCTGAGGGTT[-/C]CCCCCCAGTTTTTGC | 56061 |
rs760268323 | snp | G/T | 1.89027e-05 | 0.00307425 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562577 | TTGGCCCCCTTCTCT[G/T]TTTTTCTGACTGTCC | 56061 |
rs760303652 | snp | A/C/G | 0.000278418 | 0.0117959 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557994 | GCCGAGACTGTGGCT[A/C/G]CTGAGGCTCCCGCGC | 56061 |
rs760347497 | snp | G/T | 4.5161e-05 | 0.00475168 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558059 | GGGGGCGGCGGCCGA[G/T]GACTCCGGCGCCGCA | 56061 |
rs760494495 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570919 | GCCAATTATGTTGAC[A/G]AGGGAATGATCAAAA | 56061 |
rs760642219 | snp | A/G | 1.66153e-05 | 0.00288225 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23562220 | GCAACACAGGAAAGT[A/G]TTGGATAAAGGAAAA | 56061 |
rs760847740 | snp | A/G | 1.66907e-05 | 0.00288879 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567079 | ATGATGGTAAGTAGC[A/G]CTGGCTGAGTTCAGC | 56061 |
rs760851072 | snp | G/T | | | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557648 | GTTTCCGGCCGGGCT[G/T]TGAGAGATTAGGGGC | 56061 |
rs760951584 | snp | C/T | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23555929 | CAGAATGATTTTACC[C/T]CTGCTAACCCAAATA | 56061 |
rs760981701 | in-del | -/T | 3.80822e-05 | 0.00436344 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557655 | CCGGGCTGTGAGAGA[-/T]TTAGGGGCTGCTGCG | 56061 |
rs761031096 | snp | G/T | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23566752 | CTCAGAGACCTTTAC[G/T]ATACCATTGCCAAAC | 56061 |
rs761060726 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572679 | TCCCCGCTCCCCAAG[A/G]GCCAACTGCTTCTCA | 56061 |
rs761098296 | snp | C/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573280 | AAGCTAGAGATGGAG[C/G]GGGTGGCCGTCTCTT | 56061 |
rs761424503 | snp | G/T | 0.000151711 | 0.00870817 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558078 | TCCGGCGCCGCACGA[G/T]GCAGCCTGCAGCCGG | 56061 |
rs761479175 | snp | A/G | | | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567215 | ATGTTTTCTTCATCT[A/G]CTTAGAACTTAATCC | 56061 |
rs761483469 | in-del | -/T | 0.000140786 | 0.00838886 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557936 | CGAGCGCCCACCCCC[-/T]AACCCCCTTGCAGGC | 56061 |
rs761523710 | snp | A/G | | | intron-variant, utr-variant-3-prime, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23565059 | GTACCTCTGGAGCCC[A/G]AGGGGCAGGCAGTCT | 56061 |
rs761531787 | snp | A/G | 0.000115587 | 0.00760132 | utr-variant-5-prime, upstream-variant-2KB, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557344 | CAGGAGCGCCGCCAT[A/G]TGGGATGGAATAGCA | 56061 |
rs761532159 | snp | C/T | 0.000438308 | 0.0147974 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557045 | AATTATTTCCGCTCC[C/T]GCACCTCAGTTTCCG | 56061 |
rs761605818 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561339 | TTGATTAAATTGTTA[C/T]CTTCTATCCATTCAT | 56061 |
rs761709283 | snp | C/T | 1.86423e-05 | 0.003053 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562588 | CTCTTTTTTTCTGAC[C/T]GTCCCTCCATCTCTT | 56061 |
rs761743599 | snp | C/T | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556805 | ACTTCCCGCATGGCA[C/T]ATGTGACTCTAAAAT | 56061 |
rs761793299 | snp | C/T | 3.34135e-05 | 0.00408725 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567094 | GCTGGCTGAGTTCAG[C/T]CCCTCTCACTAGACT | 56061 |
rs761804091 | snp | C/G | 0.000109176 | 0.00738757 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558003 | GTGGCTACTGAGGCT[C/G]CCGCGCGGCCCGTCA | 56061 |
rs761986312 | snp | A/C | 1.6806e-05 | 0.00289875 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558266 | GCTGAAACAGAAGAT[A/C]CACTCGATTACAGGT | 56061 |
rs762141881 | snp | A/G | 1.65608e-05 | 0.00287752 | synonymous-codon, missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570503 | GTTGGGCCCCACGGA[A/G]GCCTCTTACTACTGG | 56061 |
rs762197914 | snp | A/G | 0.000127397 | 0.00798011 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557740 | GTGTTGTACACAATC[A/G]TCATGGCGGCGGCCG | 56061 |
rs762369001 | snp | A/G | 0.000205571 | 0.0101362 | intron-variant, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559784 | TTTTGGACAGGGCCC[A/G]TGATGGAAATTTATG | 56061 |
rs762443280 | snp | A/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560480 | GTAGATAAACTTCAA[A/T]CAACATCATTTAGTG | 56061 |
rs762444454 | snp | A/T | 0.000747477 | 0.0193179 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557679 | TGCTGCGGGGGCCAA[A/T]CTCAGCCAGCTCGCC | 56061 |
rs762484597 | snp | G/T | 5.80973e-05 | 0.00538937 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557148 | ATTCGGGAACATTCG[G/T]GGGGCGGAGACGGGA | 56061 |
rs762517404 | snp | A/C | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571904 | GTCTCTTGGTAAATT[A/C]TCTCTTTTGTGCTGT | 56061 |
rs762549017 | snp | G/T | 1.9909e-05 | 0.00315501 | intron-variant, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559800 | TGATGGAAATTTATG[G/T]CAGCAGTTGGGTGCC | 56061 |
rs762574055 | snp | C/G | 7.78498e-05 | 0.0062385 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557078 | TCTGTAAAATGGGCT[C/G]GCGCTGCCTTAACCC | 56061 |
rs762711004 | snp | G/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572409 | GGTGACAGGTTTTGG[G/T]GGAAATGAGATGCAT | 56061 |
rs762853952 | snp | C/T | 0.000110957 | 0.00744756 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558083 | CGCCGCACGAGGCAG[C/T]CTGCAGCCGGCCCCG | 56061 |
rs762921950 | snp | A/G | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23566936 | TGCTGAGTCAGAGAA[A/G]TTAGAACAGGAGGGC | 56061 |
rs763006988 | snp | C/G | 1.66679e-05 | 0.00288681 | missense, intron-variant, downstream-variant-500B, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23567063 | ACATGAAGACTACCA[C/G]ATGATGGTAAGTAGC | 56061 |
rs763200675 | snp | C/G | 1.73261e-05 | 0.00294325 | synonymous-codon, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557293 | TACGGGGCGGCCAGA[C/G]GCCGCCGAAGGCCTC | 56061 |
rs763290837 | snp | C/G | 1.76052e-05 | 0.00296686 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558319 | AGTCTTCCCCACCCC[C/G]CCTCCTGATGGCCCT | 56061 |
rs763318143 | snp | C/T | 0.000143688 | 0.00847488 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557747 | ACACAATCATCATGG[C/T]GGCGGCCGGGGCCCC | 56061 |
rs763336700 | snp | C/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564233 | AATAATTGGGGCAGG[C/G]GTGGTGGGAAGAGAG | 56061 |
rs763503182 | snp | C/T | 0.000104226 | 0.00721819 | intron-variant, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559785 | TTTGGACAGGGCCCA[C/T]GATGGAAATTTATGG | 56061 |
rs763513980 | snp | C/T | 0.000232477 | 0.0107789 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557915 | GTTCCCAAGCCCAGC[C/T]CGCGGCGAGCGCCCA | 56061 |
rs763711517 | in-del | -/A | 1.89914e-05 | 0.00308145 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557658 | GGGCTGTGAGAGATT[-/A]GGGGCTGCTGCGGGG | 56061 |
rs763713889 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23562557 | ACAGGCGTGAGCCAC[C/T]GCGCTTGGCCCCCTT | 56061 |
rs763766965 | snp | A/T | 9.38025e-05 | 0.00684781 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562580 | GCCCCCTTCTCTTTT[A/T]TTCTGACTGTCCCTC | 56061 |
rs763818564 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560487 | AACTTCAATCAACAT[C/T]ATTTAGTGACCATAG | 56061 |
rs763866747 | snp | C/G | 7.12378e-05 | 0.00596773 | synonymous-codon, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557287 | CCGTCCTACGGGGCG[C/G]CCAGAGGCCGCCGAA | 56061 |
rs764049467 | snp | G/T | | | downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23574610 | TGTTGGAGCAGCATG[G/T]TCTGCTCCTTGGTGG | 56061 |
rs764313193 | snp | A/C | 1.66893e-05 | 0.00288867 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567080 | TGATGGTAAGTAGCG[A/C]TGGCTGAGTTCAGCC | 56061 |
rs764319311 | snp | A/C | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23563382 | GCCTGTGCACGGTGT[A/C]TGGATCAGCCTTGCT | 56061 |
rs764322943 | snp | C/T | 5.79895e-05 | 0.00538437 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558094 | GCAGCCTGCAGCCGG[C/T]CCCGGCCCAGCCCCC | 56061 |
rs764480563 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564285 | CAAAAATCAGTGTTC[A/G]ACCCTATACTGATTG | 56061 |
rs764630287 | snp | A/C | 1.91371e-05 | 0.00309325 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557653 | CGGCCGGGCTGTGAG[A/C]GATTAGGGGCTGCTG | 56061 |
rs764658514 | in-del | -/A | 1.69112e-05 | 0.0029078 | upstream-variant-2KB, splice-donor-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558281 | CACTCGATTACAGGT[-/A]AATTCCTGTGGCGCT | 56061 |
rs764722119 | snp | C/T | 0.000171984 | 0.00927159 | upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23557408 | CTGCTTCCAGCCAAT[C/T]GGCCTCCGCCACAGC | 56061 |
rs764885305 | snp | A/G | | | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558666 | AGGTAATTCTTCTAA[A/G]TGAAGTTTAGGAAAC | 56061 |
rs764885318 | snp | A/G | 1.66582e-05 | 0.00288597 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559548 | GAAATAAAAGTGACC[A/G]GTGGGGCCAAGATCA | 56061 |
rs764907117 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23559432 | ATTTTTCTGTCCTTC[C/T]TTCCTTTCACTGTCC | 56061 |
rs765196377 | snp | A/G | 0.000294161 | 0.0121241 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558079 | CCGGCGCCGCACGAG[A/G]CAGCCTGCAGCCGGC | 56061 |
rs765256812 | snp | A/C | | | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557605 | ACCTGGGAGCGGAGG[A/C]GGCGGGTCTCCATAG | 56061 |
rs765290268 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564544 | CAGCCTCTGTCAACT[C/T]TGCAGGTGATTTTGC | 56061 |
rs765290638 | snp | C/T | 1.82414e-05 | 0.00301999 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558009 | ACTGAGGCTCCCGCG[C/T]GGCCCGTCAACTGCC | 56061 |
rs765330768 | snp | C/T | 1.71343e-05 | 0.00292692 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558170 | GGGCGGCGGCGCGGG[C/T]AGGGAGCTGGTGGAC | 56061 |
rs765380785 | snp | C/T | 5.96926e-05 | 0.00546285 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557181 | GGGGGCCTCGGCCTG[C/T]AGCGTCACGTCCGCC | 56061 |
rs765390832 | snp | C/G | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556754 | GTAAAGCCTTCTGGA[C/G]CGTCCTTCTTAATCC | 56061 |
rs765402159 | snp | A/T | 3.36349e-05 | 0.00410077 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558268 | TGAAACAGAAGATCC[A/T]CTCGATTACAGGTAA | 56061 |
rs765414191 | snp | A/C | 1.67103e-05 | 0.00289048 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567096 | TGGCTGAGTTCAGCC[A/C]CTCTCACTAGACTCC | 56061 |
rs765424332 | in-del | -/C | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569123 | TCTCTTTTCCAAACA[-/C]CTTTACCTTTGTCCT | 56061 |
rs765445321 | snp | A/G | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556161 | GATCTTTGTATGTTC[A/G]TCCTGGGATTTGGGA | 56061 |
rs765488005 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573652 | GTAGGCTCCTTAGTT[A/G]CTGCTTTACCTGATG | 56061 |
rs765499178 | snp | A/G | 0.000203604 | 0.0100876 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557688 | GGCCAATCTCAGCCA[A/G]CTCGCCTCTTCCCAG | 56061 |
rs765537352 | snp | A/G | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23555592 | GCTTTGGCATTCTAC[A/G]TAAGTGCTCTTCAAA | 56061 |
rs765634702 | snp | C/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561776 | GCTAGGAGAGCAACA[C/G]CCTTTGTCGCCCTCT | 56061 |
rs765661347 | snp | C/T | 1.69424e-05 | 0.00291048 | splice-donor-variant | UBFD1 | GRCh38.p7 | 16:23559678 | TCTGCAGGCAGAAAG[C/T]GAGTCCATCTTGTGC | 56061 |
rs765807650 | snp | A/C | 0.000131259 | 0.00810015 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557742 | GTTGTACACAATCAT[A/C]ATGGCGGCGGCCGGG | 56061 |
rs765841182 | snp | G/T | 5.44746e-05 | 0.00521865 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559698 | CCATCTTGTGCTTCT[G/T]GGTCTTGAGAAATTT | 56061 |
rs765945891 | snp | C/G/T | 1.93913e-05 | 0.00311372 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557755 | ATCATGGCGGCGGCC[C/G/T]GGGCCCCGGATGGTG | 56061 |
rs766038316 | snp | C/T | 2.18091e-05 | 0.00330213 | intron-variant, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559815 | GCAGCAGTTGGGTGC[C/T]GCAGAGTGGAGGTGA | 56061 |
rs766075959 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23568561 | CGTGGTGGCTCATGC[C/T]TGTAATCCCAGCACT | 56061 |
rs766152468 | snp | G/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561841 | TTTTTTTTTTTTTTT[G/T]AGGGGAGGAGGGCAA | 56061 |
rs766169120 | snp | C/T | 0.00120409 | 0.0245071 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557093 | CGCGCTGCCTTAACC[C/T]TCCTCCGCCCGCCCA | 56061 |
rs766171056 | snp | A/C/G | 0.000128537 | 0.00801592 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558092 | AGGCAGCCTGCAGCC[A/C/G]GCCCCGGCCCAGCCC | 56061 |
rs766204017 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571001 | TACATCTTTGGTTGC[A/G]AACATTTGGACTGCA | 56061 |
rs766230956 | snp | C/T | 3.3539e-05 | 0.00409492 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562746 | GTATGTTCTTCCTCG[C/T]CTCCTTGCTGGCCCA | 56061 |
rs766257618 | snp | C/G | 8.72897e-05 | 0.00660585 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558154 | GCAACGGCGAAGACG[C/G]GGGCGGCGGCGCGGG | 56061 |
rs766325231 | in-del | -/TAG | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569040 | GGATGGGTAATGACT[-/TAG]TATTTCATTGAAATG | 56061 |
rs766343503 | snp | C/T | 1.7603e-05 | 0.00296668 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558322 | CTTCCCCACCCCGCC[C/T]CCTGATGGCCCTTGC | 56061 |
rs766457293 | snp | A/G | 8.01271e-05 | 0.00632907 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557198 | GCGTCACGTCCGCCA[A/G]GGTTACCTGTGGGGC | 56061 |
rs766538301 | snp | C/T | 8.49654e-05 | 0.00651732 | synonymous-codon, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557299 | GCGGCCAGAGGCCGC[C/T]GAAGGCCTCTCGCGC | 56061 |
rs766542695 | in-del | -/CTCT | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23562828 | CCCTCCTTCTGAAAC[-/CTCT]CTCTCCACTGTGCTT | 56061 |
rs766543202 | snp | C/G/T | 3.39376e-05 | 0.0041192 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558286 | CGATTACAGGTAATT[C/G/T]CTGTGGCGCTGACAG | 56061 |
rs766608849 | snp | A/G | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23565694 | GAACTGAAGTAAAAT[A/G]TCTTAAGTCCCCAGC | 56061 |
rs766698131 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573289 | ATGGAGGGGGTGGCC[A/G]TCTCTTAGACATTGG | 56061 |
rs766715666 | snp | C/T | 3.74413e-05 | 0.00432657 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557916 | TTCCCAAGCCCAGCC[C/T]GCGGCGAGCGCCCAC | 56061 |
rs767010643 | snp | A/T | 1.65611e-05 | 0.00287755 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570548 | AACTCAATATGTGGA[A/T]GCAATCAAAGACACT | 56061 |
rs767066388 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23567756 | GAAGTTGATTCTGCA[A/G]TTGCCCATCAGGGGC | 56061 |
rs767123009 | snp | A/C | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561358 | CTATCCATTCATTGT[A/C]CCCTAGTTCCAGCCT | 56061 |
rs767175944 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560604 | AAGGAGTATAAAAAC[A/G]AGAAGTGTTTTTATA | 56061 |
rs767211692 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569423 | AGCTGGGCATGGTGG[C/T]GCGCACCTGTAATCC | 56061 |
rs767229649 | snp | C/T | 0.000128477 | 0.00801386 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557939 | GCGCCCACCCCCTAA[C/T]CCCCTTGCAGGCATG | 56061 |
rs767323754 | snp | A/C | 5.21127e-05 | 0.00510428 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557116 | CCCGCCCACTCTGAC[A/C]CCACCGGAAAGGATT | 56061 |
rs767338317 | snp | A/C | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556304 | TTGCTAAGCTCCCAA[A/C]AGCACTAGCACAGTG | 56061 |
rs767367311 | snp | A/C | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556885 | CCACAGAGCAAGGCC[A/C]CTACCTTTCTCAATG | 56061 |
rs767367797 | snp | C/T | 3.45322e-05 | 0.0041551 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558164 | AGACGCGGGCGGCGG[C/T]GCGGGCAGGGAGCTG | 56061 |
rs767387586 | snp | A/G | 3.47216e-05 | 0.00416649 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557168 | CGGAGACGGGACAGG[A/G]GGCCTCGGCCTGTAG | 56061 |
rs767393078 | snp | C/G | | | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567265 | CTGTTTATTTTACAC[C/G]CCCCCACACACACCT | 56061 |
rs767647301 | snp | A/C | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23565569 | AGACAGCTGCTGCCC[A/C]GGTCCTGCTTTAGGG | 56061 |
rs767737469 | snp | A/G | 3.46368e-05 | 0.0041614 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562615 | TCTTACCATTCTCTC[A/G]TGCCTTCAGGAGCGC | 56061 |
rs768069730 | snp | A/G | 0.000275141 | 0.0117258 | missense, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557303 | CCAGAGGCCGCCGAA[A/G]GCCTCTCGCGCTGCA | 56061 |
rs768069892 | snp | A/G | 8.44345e-05 | 0.00649693 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559509 | ATGTATAAGGGACTC[A/G]TCCCCGAGGATAAAA | 56061 |
rs768152372 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561214 | TCTGGGGGTGATGTC[C/T]GGAGTGACTTTTTGC | 56061 |
rs768159749 | snp | C/G | 2.40434e-05 | 0.00346715 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559423 | TATCCATACATTTTT[C/G]TGTCCTTCCTTCCTT | 56061 |
rs768193443 | in-del | -/TAA | | | cds-indel, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572097 | TCCTTGTGAGCCAGT[-/TAA]TGATGATATTCTACG | 56061 |
rs768216958 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572443 | GTAGAACATCATCTC[A/G]GGTCAGACATTGCCC | 56061 |
rs768255871 | snp | A/G | 1.65853e-05 | 0.00287964 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23562681 | ATCTGGAGGAAAAGT[A/G]AGACTCACCTTTAAA | 56061 |
rs768319984 | snp | C/T | 1.94165e-05 | 0.00311575 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559457 | CTGTCCACCTTCTAC[C/T]TTTTCCCAAGGTCTC | 56061 |
rs768370096 | snp | C/G | 1.82483e-05 | 0.00302057 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558133 | CCGCAGCCCAGGCCT[C/G]GGTCAGCAACGGCGA | 56061 |
rs768392717 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23574062 | CTGAAGTTACAGGTG[A/G]TTGGGAGCCCTCTCG | 56061 |
rs768456351 | snp | C/T | 0.000465658 | 0.0152516 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558065 | GGCGGCCGAGGACTC[C/T]GGCGCCGCACGAGGC | 56061 |
rs768474983 | snp | G/T | 3.35993e-05 | 0.0040986 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562282 | CCCAGGTAAGGCGGA[G/T]TTCTTTGTGAGCATT | 56061 |
rs768482619 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573069 | TCTGGAGTGTACTGA[C/T]TAAATCTGTGTAAGC | 56061 |
rs768608466 | snp | C/T | 0.000232802 | 0.0107864 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557729 | GGGAGCGGTGGGTGT[C/T]GTACACAATCATCAT | 56061 |
rs768617657 | snp | A/G | 0.000111514 | 0.00746622 | missense, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557334 | GCAGTCTCCTCAGGA[A/G]CGCCGCCATGTGGGA | 56061 |
rs768744513 | in-del | -/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561707 | CGGATTACCAGCATC[-/T]TATAGTGTTCTCTGG | 56061 |
rs768771480 | snp | C/T | 1.69206e-05 | 0.00290861 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562173 | ACGAAATGTAGTCAG[C/T]TGTTTCATTTCATTC | 56061 |
rs768965559 | snp | A/G | 0.000725953 | 0.0190381 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557808 | CCGGGCCGGGGCTGA[A/G]GTTGCGGTCGCTCCT | 56061 |
rs768980384 | snp | C/T | 7.66724e-05 | 0.00619115 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559772 | GAATAAGCTCCTTTT[C/T]GGACAGGGCCCATGA | 56061 |
rs768993874 | snp | C/T | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23565223 | AGCAGCGAGTTGGCC[C/T]CTTCGTGGGGCGCTT | 56061 |
rs769047996 | snp | A/G | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23566338 | CATAAGGTTACAAAG[A/G]AATTTCTTGGGTATT | 56061 |
rs769176583 | snp | C/T | 1.65908e-05 | 0.00288012 | intron-variant | UBFD1 | GRCh38.p7 | 16:23570453 | CGACCTCTGAAGTAC[C/T]GCTTGGTTTTCCTTT | 56061 |
rs769352484 | in-del | -/GA | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556178 | CCTGGGATTTGGGAT[-/GA]GAGGCATACTCCGTG | 56061 |
rs769399472 | snp | A/G | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23555548 | CTAATAAGTGGCCAC[A/G]ACAGAAATTTGGACC | 56061 |
rs769412464 | snp | A/G | 1.7552e-05 | 0.00296238 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558148 | CGGTCAGCAACGGCG[A/G]AGACGCGGGCGGCGG | 56061 |
rs769458794 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560422 | GATCGTTCTTCCTAG[C/T]GTTCCAAGGAAGACA | 56061 |
rs769470987 | snp | C/G | 6.30418e-05 | 0.00561399 | upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23557524 | AGGGGGCAGAGGCCA[C/G]AGAAAGGGCTATTTC | 56061 |
rs769511897 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572348 | CGGCCTGCAGTTCCT[A/G]GGGAAAAGAGTACAT | 56061 |
rs769576860 | snp | G/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573000 | TGGGCCACAGTAGTA[G/T]TCACTGTTTAGTCTT | 56061 |
rs769606947 | snp | C/T | 4.01019e-05 | 0.00447765 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557072 | TCCGCCTCTGTAAAA[C/T]GGGCTCGCGCTGCCT | 56061 |
rs769607029 | snp | C/T | 1.67719e-05 | 0.0028958 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558229 | ATGACGTGAAGTTCC[C/T]CCTGGACAGCACAGG | 56061 |
rs769665539 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561402 | TATGCCTATAAGGCC[A/G]CAGATGGAGAAGAAA | 56061 |
rs769709492 | snp | C/T | 1.66277e-05 | 0.00288333 | synonymous-codon, intron-variant, downstream-variant-500B, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23567012 | GAAATTGCCCATGGG[C/T]TCCATAAAAAATGTG | 56061 |
rs769772097 | snp | A/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561059 | GTACAGGAAATCTTG[A/T]TCAAAAGGTACTTGA | 56061 |
rs769954055 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569279 | AGAAAAGAGGCTGGG[C/T]GCAGTGGCTCACACC | 56061 |
rs769996685 | snp | A/C/G | 0.000122128 | 0.00781347 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558316 | GCCAGTCTTCCCCAC[A/C/G]CCGCCTCCTGATGGC | 56061 |
rs770027491 | in-del | -/C | 3.95898e-05 | 0.00444897 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557076 | CCTCTGTAAAATGGG[-/C]TCGCGCTGCCTTAAC | 56061 |
rs770047552 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572728 | CAGGAGGACCAAAGC[C/T]TGCGTGAGCCTTTTT | 56061 |
rs770139354 | snp | C/T | 4.49035e-05 | 0.00473811 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557813 | CCGGGGCTGAGGTTG[C/T]GGTCGCTCCTCTGGG | 56061 |
rs770144500 | snp | C/G | | | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558379 | CTTGCATCAGGTCCC[C/G]CCATCCTTACAGCAG | 56061 |
rs770296235 | snp | C/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564154 | CCATCATCTGACGTT[C/G]ACTGGTTTCAGGGAC | 56061 |
rs770301656 | in-del | -/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23570324 | GCCTGCCTGTTTTTG[-/T]TTTTTGGTTGGGAGA | 56061 |
rs770312744 | snp | C/T | 1.67773e-05 | 0.00289626 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562188 | CTGTTTCATTTCATT[C/T]TCTCTTCTGACTTAT | 56061 |
rs770421440 | snp | C/T | 1.67287e-05 | 0.00289207 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562193 | TCATTTCATTCTCTC[C/T]TCTGACTTATAGCAA | 56061 |
rs770456586 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564022 | ATTACTCTCTGACTT[A/G]TCTGTCCCCCTGTTA | 56061 |
rs770468893 | snp | C/G | 4.53463e-05 | 0.00476142 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557155 | AACATTCGTGGGGCG[C/G]AGACGGGACAGGGGG | 56061 |
rs770531891 | snp | C/T | 8.22639e-05 | 0.00641289 | missense, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557268 | TGCCCAGGTTGGCCT[C/T]GCGCCGTCCTACGGG | 56061 |
rs770692660 | snp | A/T | 3.33383e-05 | 0.00408265 | missense, intron-variant, downstream-variant-500B, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23567064 | CATGAAGACTACCAC[A/T]TGATGGTAAGTAGCG | 56061 |
rs770843153 | snp | C/T | 1.67708e-05 | 0.00289571 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558239 | GTTCCCCCTGGACAG[C/T]ACAGGCTCCGAGCTG | 56061 |
rs770862634 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23559407 | CCAAAGAGCTGTGTA[A/G]TATCCATACATTTTT | 56061 |
rs770887105 | snp | A/G | 1.65798e-05 | 0.00287917 | intron-variant | UBFD1 | GRCh38.p7 | 16:23570459 | CTGAAGTACCGCTTG[A/G]TTTTCCTTTTTCCCT | 56061 |
rs770919458 | snp | A/C | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572256 | ATTAGTACATTTGTG[A/C]AGTGCAGCATCCAAG | 56061 |
rs771097223 | in-del | -/GCCGTCCTACGGGGCGGCCAGAGGCCGCCGAAGGCCTCTCGCGCTGCA | 8.9674e-05 | 0.00669544 | cds-indel, upstream-variant-2KB, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557271 | CCAGGTTGGCCTCGC[lengthTooLong]GCAGTCTCCTCAGGA | 56061 |
rs771213010 | snp | A/C | 1.73189e-05 | 0.00294264 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559482 | GGTCTCCCGCCTGCC[A/C]TGCAGAAAGTCATGT | 56061 |
rs771287266 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569060 | TTTCATTGAAATGTT[C/T]ATTTCTCTCGAGTTA | 56061 |
rs771295101 | in-del | -/C | 3.34588e-05 | 0.00409002 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567110 | CCCTCTCACTAGACT[-/C]CCACTTCACCTGGCA | 56061 |
rs771306276 | snp | A/C | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23562792 | ACCCAGCAGCACTCA[A/C]ATTTTAGAGTGCGAT | 56061 |
rs771312983 | snp | A/G | 1.692e-05 | 0.00290856 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562295 | GATTTCTTTGTGAGC[A/G]TTCTGAAAATGAGGC | 56061 |
rs771376431 | in-del | -/C | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23574229 | GGTGTATGCTCTGTT[-/C]TGGTTTCTGTTTTCA | 56061 |
rs771396428 | snp | C/G | | | downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23574463 | ACATTTGGAATTGGA[C/G]CTGGAGCCATTTCTT | 56061 |
rs771397575 | snp | A/G | 0.000569314 | 0.0168622 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557643 | CACCTGTTTCCGGCC[A/G]GGCTGTGAGAGATTA | 56061 |
rs771476228 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570709 | AAAAAATCTATATTC[A/G]ATCTGAGGTGATGTG | 56061 |
rs771559898 | snp | A/G | 1.80208e-05 | 0.00300168 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557990 | GGAGGCCGAGACTGT[A/G]GCTACTGAGGCTCCC | 56061 |
rs771569694 | snp | A/G | 0.00010345 | 0.00719127 | synonymous-codon, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557319 | GCCTCTCGCGCTGCA[A/G]CAGTCTCCTCAGGAG | 56061 |
rs771571759 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23568460 | TCCATGCCCAGCCCT[C/T]TCTCTGTAGTCTTTA | 56061 |
rs771645818 | snp | C/T | 1.73321e-05 | 0.00294376 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562319 | ATGAGGCAGCCCCAC[C/T]GTCTGACTTGAGGTT | 56061 |
rs771687185 | snp | A/G | 1.66835e-05 | 0.00288816 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23562645 | CCTGCCAACGGTACC[A/G]CTGTCCGGCATGTAC | 56061 |
rs771802397 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23563776 | CCTGTGTATTTTAGC[C/T]GCATCTCTCTGTGAA | 56061 |
rs771829461 | snp | C/T | 1.66629e-05 | 0.00288638 | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570638 | CCAAAGTGAAGGACA[C/T]TGCCGGGAGAGGCCT | 56061 |
rs771941637 | snp | C/T | 6.15075e-05 | 0.00554527 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559450 | CCTTTCACTGTCCAC[C/T]TTCTACCTTTTCCCA | 56061 |
rs772004221 | snp | A/T | | | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558495 | TAAAGCCGAAGTCTG[A/T]CGTTTAGGCCCCAGT | 56061 |
rs772029750 | snp | A/C | 3.47355e-05 | 0.00416732 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558311 | TGACAGCCAGTCTTC[A/C]CCACCCCGCCTCCTG | 56061 |
rs772265935 | snp | A/G | 1.66076e-05 | 0.00288158 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559635 | GCGCAGCAGGATGCA[A/G]AGGCCGAAGAGAACA | 56061 |
rs772455328 | snp | A/G | 4.75364e-05 | 0.00487503 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559756 | GGTTATATTCTCCCT[A/G]GAATAAGCTCCTTTT | 56061 |
rs772455460 | snp | C/T | 2.31415e-05 | 0.0034015 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557625 | GGTCTCCATAGAAAC[C/T]TCCACCTGTTTCCGG | 56061 |
rs772473529 | snp | C/T | 2.18205e-05 | 0.00330299 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558052 | CCGCGGCGGGGGCGG[C/T]GGCCGAGGACTCCGG | 56061 |
rs772515763 | in-del | -/T | 0.000132943 | 0.00815193 | upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23557482 | AATCCCACGCCCCCC[-/T]GGACGGCTGCGGCCG | 56061 |
rs772523253 | snp | C/G | 0.000371747 | 0.0136285 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23556962 | CAATGCACATGTATG[C/G]AATGCATGAAAAAAA | 56061 |
rs772525749 | snp | G/T | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556667 | CCTGGCCTCCAGAAG[G/T]TTCCTTCTATAGGCT | 56061 |
rs772592851 | in-del | -/GCAAGTA | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573549 | CATGGTGGGCCTTTT[-/GCAAGTA]GCGTTAGCTCTTTTT | 56061 |
rs772599471 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23574343 | TGAATAGCTGTCTTA[C/T]TGTTTATCCTGTAAG | 56061 |
rs772644233 | snp | C/G | 0.000209864 | 0.0102415 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558152 | CAGCAACGGCGAAGA[C/G]GCGGGCGGCGGCGCG | 56061 |
rs772737210 | snp | C/T | 1.67722e-05 | 0.00289583 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558231 | GACGTGAAGTTCCCC[C/T]TGGACAGCACAGGCT | 56061 |
rs772804322 | snp | A/C | 0.000764234 | 0.0195329 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557076 | CCTCTGTAAAATGGG[A/C]TCGCGCTGCCTTAAC | 56061 |
rs772923572 | snp | G/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561414 | GCCACAGATGGAGAA[G/T]AAAGAAGACTCAGGC | 56061 |
rs772943113 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570912 | TAGATCTGCCAATTA[C/T]GTTGACAAGGGAATG | 56061 |
rs772993391 | snp | C/T | | | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558536 | TGTTGCTCTAACATC[C/T]CTAATTAAAAAATCA | 56061 |
rs773011319 | snp | C/T | 0.000127129 | 0.00797173 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557146 | TCATTCGGGAACATT[C/T]GTGGGGCGGAGACGG | 56061 |
rs773021855 | snp | C/T | 1.66322e-05 | 0.00288371 | synonymous-codon, intron-variant, downstream-variant-500B, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23567024 | GGGCTCCATAAAAAA[C/T]GTGGTCAGTGAACCT | 56061 |
rs773104512 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571758 | GGTTGGCCAGTGTTA[C/T]TGAACAACAAAAATG | 56061 |
rs773295310 | snp | G/T | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23565571 | ACAGCTGCTGCCCAG[G/T]TCCTGCTTTAGGGCC | 56061 |
rs773396589 | snp | C/T | 0.000136156 | 0.00824982 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557744 | TGTACACAATCATCA[C/T]GGCGGCGGCCGGGGC | 56061 |
rs773513954 | snp | A/T | 1.67609e-05 | 0.00289486 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562189 | TGTTTCATTTCATTC[A/T]CTCTTCTGACTTATA | 56061 |
rs773537212 | in-del | -/A | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561996 | GTCACAGCAGTAGGT[-/A]AGTGGCTAGCACAGG | 56061 |
rs773595392 | snp | A/C | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564126 | TAAATGCTAAAGAGA[A/C]GTATAGGGGGTCCCA | 56061 |
rs773671183 | in-del | -/TC | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23574168 | TTTTTCTTAAAGAGT[-/TC]TGCTGAATTATTTGA | 56061 |
rs773708399 | snp | C/T | 3.77886e-05 | 0.00434659 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557909 | GCGTCCGTTCCCAAG[C/T]CCAGCCCGCGGCGAG | 56061 |
rs773719717 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573264 | TAACAGCGTTGACTC[A/G]AAGCTAGAGATGGAG | 56061 |
rs773784821 | snp | A/G | 3.98018e-05 | 0.00446086 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557160 | TCGTGGGGCGGAGAC[A/G]GGACAGGGGGCCTCG | 56061 |
rs773873306 | snp | A/G | 4.47958e-05 | 0.00473243 | missense, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557271 | CCAGGTTGGCCTCGC[A/G]CCGTCCTACGGGGCG | 56061 |
rs773976640 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573106 | AAATACTCTTTCTTT[C/T]AGGTAGCGTCACAGT | 56061 |
rs774083841 | snp | C/T | 1.6571e-05 | 0.0028784 | intron-variant | UBFD1 | GRCh38.p7 | 16:23570473 | GGTTTTCCTTTTTCC[C/T]TTCCAGGCGTTTCAG | 56061 |
rs774132204 | snp | A/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569347 | TCACTTGAGGTCAGG[A/T]GTTTAAGACCAGCCT | 56061 |
rs774146336 | snp | C/T | 1.73809e-05 | 0.0029479 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558158 | CGGCGAAGACGCGGG[C/T]GGCGGCGCGGGCAGG | 56061 |
rs774171942 | snp | C/T | 0.000417143 | 0.014436 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567078 | CATGATGGTAAGTAG[C/T]GCTGGCTGAGTTCAG | 56061 |
rs774522242 | snp | C/T | 1.69275e-05 | 0.0029092 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559506 | GTCATGTATAAGGGA[C/T]TCGTCCCCGAGGATA | 56061 |
rs774547890 | snp | C/T | | | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23559219 | TTATTCAATGCTAGC[C/T]ACCGTACTAAATGCC | 56061 |
rs774579564 | in-del | -/C | 0.00100438 | 0.022387 | utr-variant-5-prime, upstream-variant-2KB, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557373 | CACACGTGGGCTTCT[-/C]CCTGCGTCACTTCCG | 56061 |
rs774627806 | snp | G/T | 1.69275e-05 | 0.0029092 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562297 | TTTCTTTGTGAGCAT[G/T]CTGAAAATGAGGCAG | 56061 |
rs774644538 | snp | G/T | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23565508 | TATTTTTGTGAAATC[G/T]CCAGACATTTCAGGA | 56061 |
rs774718282 | snp | A/G | 1.66045e-05 | 0.00288132 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559632 | GCTGCGCAGCAGGAT[A/G]CAAAGGCCGAAGAGA | 56061 |
rs774745705 | snp | A/G | 1.85383e-05 | 0.00304447 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557922 | AGCCCAGCCCGCGGC[A/G]AGCGCCCACCCCCTA | 56061 |
rs774818229 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571864 | TCATCTCCTTCTGGC[C/T]TGGTTGCCTCTGAAA | 56061 |
rs775086014 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561130 | GTTTCATTGAGGCCA[A/G]TTATGATGCATCACA | 56061 |
rs775203980 | snp | C/T | 0.000185185 | 0.00962072 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557992 | AGGCCGAGACTGTGG[C/T]TACTGAGGCTCCCGC | 56061 |
rs775217559 | snp | C/G | 0.000101997 | 0.00714061 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557170 | GAGACGGGACAGGGG[C/G]CCTCGGCCTGTAGCG | 56061 |
rs775219804 | snp | A/C | 1.73703e-05 | 0.00294701 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558312 | GACAGCCAGTCTTCC[A/C]CACCCCGCCTCCTGA | 56061 |
rs775275087 | snp | C/G | 3.33056e-05 | 0.00408065 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23562648 | GCCAACGGTACCGCT[C/G]TCCGGCATGTACAAT | 56061 |
rs775305983 | snp | C/T | 3.35492e-05 | 0.00409554 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558247 | TGGACAGCACAGGCT[C/T]CGAGCTGAAACAGAA | 56061 |
rs775392539 | snp | C/T | 0.000184142 | 0.0095936 | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570642 | AGTGAAGGACATTGC[C/T]GGGAGAGGCCTGCAG | 56061 |
rs775416806 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573978 | CCCTTTGTCTTAAGG[C/T]TTTGTGATAAAGTCA | 56061 |
rs775420867 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560441 | CCAAGGAAGACAGGT[A/G]TTCTCAACTGTGTCT | 56061 |
rs775604886 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561589 | GAAAGGTGGCTCTTC[C/T]AGGTTCCTGTTTAGC | 56061 |
rs775768886 | snp | C/T | 2.24117e-05 | 0.00334744 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558055 | CGGCGGGGGCGGCGG[C/T]CGAGGACTCCGGCGC | 56061 |
rs775779552 | snp | A/T | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556781 | ATCCCCAGTCTCCTA[A/T]CCTGTTTCACTTCCC | 56061 |
rs775780254 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564217 | ACCAAGTTTTATGGA[A/G]AATAATTGGGGCAGG | 56061 |
rs775859551 | snp | A/G | 0.000491642 | 0.015671 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557720 | GGCCTCTGCGGGAGC[A/G]GTGGGTGTTGTACAC | 56061 |
rs775888829 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23562372 | TTTTTCCCTGTTTTT[C/T]TTTTTTTGAGACAGA | 56061 |
rs775915676 | in-del | -/T | 0.00101471 | 0.0225017 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557648 | TTTCCGGCCGGGCTG[-/T]TGAGAGATTAGGGGC | 56061 |
rs776067597 | snp | C/T | | | intron-variant, missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23564063 | GGGAACCGAACATGC[C/T]TAAATCACCTGTTTC | 56061 |
rs776135503 | snp | A/C/T | 1.68616e-05 | 0.00290353 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559511 | GTATAAGGGACTCGT[A/C/T]CCCGAGGATAAAACA | 56061 |
rs776212529 | snp | C/T | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573341 | GGGCTTCTTTGTCTT[C/T]TAGAATCTCTACCGG | 56061 |
rs776236181 | snp | A/G | 0.000258766 | 0.0113717 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558072 | GAGGACTCCGGCGCC[A/G]CACGAGGCAGCCTGC | 56061 |
rs776317795 | snp | A/G | 1.65839e-05 | 0.00287953 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23562696 | GAGACTCACCTTTAA[A/G]CTAGAACAAGACCAG | 56061 |
rs776366671 | snp | C/T | 1.77558e-05 | 0.00297953 | synonymous-codon, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557335 | CAGTCTCCTCAGGAG[C/T]GCCGCCATGTGGGAT | 56061 |
rs776534855 | snp | C/G | 7.19024e-05 | 0.0059955 | synonymous-codon, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559472 | CTTTTCCCAAGGTCT[C/G]CCGCCTGCCATGCAG | 56061 |
rs776559495 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571832 | GCCCTTCTGTTCTCT[A/G]TACACGTGAACTTCT | 56061 |
rs776698766 | snp | C/T | 1.87654e-05 | 0.00306306 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562582 | CCCCTTCTCTTTTTT[C/T]CTGACTGTCCCTCCA | 56061 |
rs776806229 | snp | A/C | 1.66346e-05 | 0.00288393 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559649 | AAAGGCCGAAGAGAA[A/C]AAGAAGGAGCCTCTC | 56061 |
rs776847678 | in-del | -/TC | | | downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23574394 | TGATAATTAATTGCG[-/TC]TCTCTTTTTCCTTCC | 56061 |
rs776915353 | snp | C/T | 0.000596837 | 0.0172645 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557027 | GAAACTCCTGGCAAT[C/T]TGAATTATTTCCGCT | 56061 |
rs776948149 | snp | A/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23564434 | CAGAATATCTGAGGG[A/T]TCCCCCCAGTTTTTG | 56061 |
rs777191502 | snp | C/T | | | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23566520 | TGCCCACCACCACGC[C/T]TGGCTAATTTTTTGT | 56061 |
rs777194134 | snp | A/T | 9.01266e-05 | 0.00671232 | intron-variant, splice-acceptor-variant | UBFD1 | GRCh38.p7 | 16:23559777 | AGCTCCTTTTTGGAC[A/T]GGGCCCATGATGGAA | 56061 |
rs777303664 | snp | C/G | 1.71855e-05 | 0.00293129 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558297 | AATTCCTGTGGCGCT[C/G]ACAGCCAGTCTTCCC | 56061 |
rs777398039 | snp | A/G | 0.000128593 | 0.00801746 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557715 | CCAGCGGCCTCTGCG[A/G]GAGCGGTGGGTGTTG | 56061 |
rs777671933 | snp | C/T | 1.69516e-05 | 0.00291127 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562166 | TAACACGACGAAATG[C/T]AGTCAGCTGTTTCAT | 56061 |
rs777685397 | snp | A/G | | | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558264 | GAGCTGAAACAGAAG[A/G]TCCACTCGATTACAG | 56061 |
rs777732287 | snp | A/C | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573807 | CTCTTGCACTTGCCC[A/C]GCCTTTCTTTGCCAG | 56061 |
rs777760625 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561973 | TAGCTGCATTTCAAG[C/T]GTGTAATAGTCACAG | 56061 |
rs777768309 | snp | A/G | 2.89482e-05 | 0.00380437 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559735 | TTGTCCTCTTGAGCC[A/G]TGGCTGGTTATATTC | 56061 |
rs777799222 | snp | C/G | 1.91492e-05 | 0.00309423 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558031 | TCAACTGCCTGGAGG[C/G]TGAAGCCGCGGCGGG | 56061 |
rs777885111 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23561016 | AGTTACTAATGGTAG[C/T]TTAACAGGCTTAGAA | 56061 |
rs778168703 | snp | C/T | | | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557551 | TTTCCCGGACCCGCC[C/T]CCTTCAGCTTGGGAA | 56061 |
rs778190224 | in-del | -/CT | 3.49785e-05 | 0.00418187 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557109 | TCCTCCGCCCGCCCA[-/CT]CTGACACCACCGGAA | 56061 |
rs778254235 | snp | A/C | 1.68337e-05 | 0.00290114 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562285 | AGGTAAGGCGGATTT[A/C]TTTGTGAGCATTCTG | 56061 |
rs778293276 | snp | C/T | | | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558384 | ATCAGGTCCCCCCAT[C/T]CTTACAGCAGTCTTC | 56061 |
rs778347650 | snp | G/T | 3.60328e-05 | 0.00424442 | missense, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557260 | GGCATCAGTGCCCAG[G/T]TTGGCCTCGCGCCGT | 56061 |
rs778356148 | snp | C/T | 2.10489e-05 | 0.00324407 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559447 | CTTCCTTTCACTGTC[C/T]ACCTTCTACCTTTTC | 56061 |
rs778403368 | in-del | -/TTCT | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23573330 | GAGCCTCCTGAGGGC[-/TTCT]TTGTCTTCTAGAATC | 56061 |
rs778444046 | snp | G/T | 1.72469e-05 | 0.00293652 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558305 | TGGCGCTGACAGCCA[G/T]TCTTCCCCACCCCGC | 56061 |
rs778444266 | snp | A/G | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556568 | CATGTTGGTCAGACG[A/G]CTCTCAAGTGATCCA | 56061 |
rs778537027 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569945 | CCTCTTTAAAAAGAG[C/T]TCCAGTATTGGTGTG | 56061 |
rs778668458 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23574077 | GTTGGGAGCCCTCTC[A/G]CATGCAGAACATCTG | 56061 |
rs778784798 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23563674 | TAAGGACACATTCAA[A/G]TGCCTAACCATAGCG | 56061 |
rs778816292 | snp | C/T | 1.66217e-05 | 0.0028828 | utr-variant-3-prime, stop-lost, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570629 | GAGACTGACCCAAAG[C/T]GAAGGACATTGCCGG | 56061 |
rs778913666 | snp | C/T | 4.83887e-05 | 0.00491854 | upstream-variant-2KB, intron-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557791 | GGCGGGGGTGGCGGG[C/T]GCCGGGCCGGGGCTG | 56061 |
rs779024667 | snp | C/T | 2.11477e-05 | 0.00325168 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558118 | AGCCCCCTGGGGACC[C/T]CGCAGCCCAGGCCTC | 56061 |
rs779130268 | snp | C/T | 1.71888e-05 | 0.00293157 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557131 | ACCACCGGAAAGGAT[C/T]CATTCGGGAACATTC | 56061 |
rs779220837 | snp | A/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560879 | AACCGATTGAGTTTC[A/T]TCTCATATTCCTGTT | 56061 |
rs779288226 | snp | C/T | 6.7023e-05 | 0.00578852 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23562638 | AGGAGCGCCTGCCAA[C/T]GGTACCGCTGTCCGG | 56061 |
rs779291446 | snp | C/T | 3.40698e-05 | 0.0041272 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562778 | TGCCTGCCTCTGGCA[C/T]CCAGCAGCACTCACA | 56061 |
rs779399154 | snp | C/T | 0.000617093 | 0.0175547 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558049 | AAGCCGCGGCGGGGG[C/T]GGCGGCCGAGGACTC | 56061 |
rs779470348 | snp | A/G | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23555645 | GGTCTGAAAACAGTT[A/G]TCAGTTCACAATCAA | 56061 |
rs779601161 | snp | C/G | 1.65965e-05 | 0.00288062 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559590 | TCCACCATCAATGAT[C/G]TTTTAGCAGTAAACA | 56061 |
rs779687032 | in-del | -/A | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571676 | TCTGCTCATGCATTC[-/A]GTTCAAGTGTCCTTT | 56061 |
rs779701611 | snp | C/T | 0.000175239 | 0.00935888 | upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557694 | TCTCAGCCAGCTCGC[C/T]TCTTCCCAGCGGCCT | 56061 |
rs779701849 | snp | G/T | | | intron-variant, upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23556498 | TAGCTGGGATTACAG[G/T]CATGCGCCACCATGC | 56061 |
rs779775047 | snp | G/T | 0.000121795 | 0.00780274 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558015 | GCTCCCGCGCGGCCC[G/T]TCAACTGCCTGGAGG | 56061 |
rs779805678 | snp | C/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23563336 | CTGCCTCTCCCTCCC[C/T]GCCTGGTTGCCCTCT | 56061 |
rs779897360 | in-del | -/GATCATGGTGGTTG | 1.66294e-05 | 0.00288347 | frameshift-variant, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559559 | GACCAGTGGGGCCAA[-/GATCATGGTGGTTG]GCTCCACCATCAATG | 56061 |
rs779975510 | snp | C/T | 0.000240974 | 0.010974 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559453 | TTCACTGTCCACCTT[C/T]TACCTTTTCCCAAGG | 56061 |
rs780329421 | snp | A/G | 5.07696e-05 | 0.00503808 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562171 | CGACGAAATGTAGTC[A/G]GCTGTTTCATTTCAT | 56061 |
rs780429302 | snp | C/T | 2.00636e-05 | 0.00316724 | upstream-variant-2KB, missense, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558121 | CCCCTGGGGACCCCG[C/T]AGCCCAGGCCTCGGT | 56061 |
rs780460792 | in-del | -/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572997 | GTCTGGGCCACAGTA[-/G]TATTCACTGTTTAGT | 56061 |
rs780522516 | snp | C/G | 1.67312e-05 | 0.00289229 | intron-variant, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23567110 | CCCTCTCACTAGACT[C/G]CCACTTCACCTGGCA | 56061 |
rs780612238 | snp | A/G | 1.67052e-05 | 0.00289004 | intron-variant, utr-variant-3-prime | UBFD1 | GRCh38.p7 | 16:23566950 | AGTTAGAACAGGAGG[A/G]CCCTTTGAATAATCA | 56061 |
rs780691101 | snp | A/G | | | intron-variant, utr-variant-3-prime, downstream-variant-500B | UBFD1 | GRCh38.p7 | 16:23564965 | TTACTCACCAGTCTT[A/G]TTGAGGAGCATGGCC | 56061 |
rs780716898 | snp | C/T | 3.3216e-05 | 0.00407515 | intron-variant | UBFD1 | GRCh38.p7 | 16:23570429 | GTTTGTCCTGCCTGC[C/T]TGGTCTCCCGACCTC | 56061 |
rs780804534 | snp | C/T | 1.66261e-05 | 0.00288319 | missense, intron-variant, downstream-variant-500B, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23567005 | GGACTGAGAAATTGC[C/T]CATGGGCTCCATAAA | 56061 |
rs780806967 | snp | C/T | 3.31912e-05 | 0.00407363 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23559618 | ACACACCCAAAGATG[C/T]TGCGCAGCAGGATGC | 56061 |
rs780913273 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23560934 | GTGAAATGTGAGCAC[A/G]TCAGATAGGAGTGGT | 56061 |
rs781001109 | snp | A/C | 0.000407913 | 0.0142755 | upstream-variant-2KB | EARS2, UBFD1 | GRCh38.p7 | 16:23557480 | GAAATCCCACGCCCC[A/C]CTGGACGGCTGCGGC | 56061 |
rs781166539 | in-del | -/TC | 1.76699e-05 | 0.00297231 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562609 | TCCATCTCTTACCAT[-/TC]TCTCGTGCCTTCAGG | 56061 |
rs781183380 | snp | G/T | 3.38009e-05 | 0.00411088 | intron-variant | UBFD1 | GRCh38.p7 | 16:23562174 | CGAAATGTAGTCAGC[G/T]GTTTCATTTCATTCT | 56061 |
rs781200703 | snp | C/T | 2.3898e-05 | 0.00345665 | intron-variant | UBFD1 | GRCh38.p7 | 16:23559725 | ATTTGAGGCTTTGTC[C/T]TCTTGAGCCGTGGCT | 56061 |
rs781225972 | in-del | -/T | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23569727 | TCTTCCCCTCCCCCA[-/T]TTACCATCGTCATGT | 56061 |
rs781487584 | snp | C/T | 1.78793e-05 | 0.00298987 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557966 | CATGGAGGAACCTGG[C/T]ATGGACACGGAGGCC | 56061 |
rs781511911 | in-del | -/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572198 | TCAATGCCAAGTGAT[-/G]GCATCTAGGCAGGAA | 56061 |
rs781585868 | snp | A/T | 1.71164e-05 | 0.00292539 | intron-variant, upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23557143 | GATTCATTCGGGAAC[A/T]TTCGTGGGGCGGAGA | 56061 |
rs781660031 | snp | A/G | | | intron-variant | UBFD1 | GRCh38.p7 | 16:23570112 | GGCAGCGTTTCTCCA[A/G]CTGTGGTCCCTGGAT | 56061 |
rs781664830 | snp | A/G | 1.65625e-05 | 0.00287766 | missense, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570561 | GATGCAATCAAAGAC[A/G]CTGTGCTGGGGAAAT | 56061 |
rs781726179 | snp | C/T | 6.70995e-05 | 0.00579182 | upstream-variant-2KB, synonymous-codon, nc-transcript-variant | EARS2, UBFD1 | GRCh38.p7 | 16:23558227 | GCATGACGTGAAGTT[C/T]CCCCTGGACAGCACA | 56061 |
rs781727215 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23571328 | CTTGCTGTGGTGTTC[A/G]TTGAGCAGCAGAGTA | 56061 |
rs781769097 | snp | C/G | 2.74925e-05 | 0.00370749 | missense, upstream-variant-2KB, nc-transcript-variant, utr-variant-5-prime | EARS2, UBFD1 | GRCh38.p7 | 16:23557229 | TGGGAGCGAACCGCA[C/G]TCGCACCGCAACCCC | 56061 |
rs796069969 | snp | A/G | | | utr-variant-3-prime, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23572824 | ACACCTTTTCGTACG[A/G]AGCTGTTTGAGTATT | 56061 |
rs796242080 | multinucleotide-polymorphism | AAA/TTT | | | cds-indel, nc-transcript-variant | UBFD1 | GRCh38.p7 | 16:23570949 | GCTTTGTTTTTTTTA[AAA/TTT]AAAAAAAAAGCAGTT | 56061 |