SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs4231 | snp | C/G | 0.0988009 | 0.199095 | downstream-variant-500B, utr-variant-3-prime, nc-transcript-variant | CUTA, PHF1 | GRCh38.p7 | 6:33416197 | TAGGGAGAACTACCC[C/G]CTATCTCTCCAGGTA | 5252 |
rs437874 | snp | C/G | 0.0607131 | 0.163311 | utr-variant-3-prime, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409707 | ACACACACACACACA[C/G]AGATCTGGATCCGTC | 5252 |
rs442745 | snp | A/G | 0.462438 | 0.131795 | intron-variant | PHF1 | GRCh38.p7 | 6:33414464 | AAGCTGGGAGAAATG[A/G]AGAAAAATGGGGCCA | 5252 |
rs452513 | snp | C/T | 0.16976 | 0.236773 | intron-variant, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33408938 | agcactttgggaggc[C/T]gaggtgggtggatca | 5252 |
rs761583 | snp | C/T | 0.0352966 | 0.128072 | intron-variant | PHF1 | GRCh38.p7 | 6:33413682 | CCTTCCCCATAACTG[C/T]CCCAAACCCTAAACT | 5252 |
rs1053683 | snp | C/T | 0 | 0 | missense, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416675 | TCACAGAGTCAGTTT[C/T]TGACTCTATCACAGT | 5252 |
rs1329704 | snp | A/T | | | intron-variant | PHF1 | GRCh38.p7 | 6:33412966 | ATGGAAAGGGGTGGT[A/T]TAACCTTTGCAGGCA | 5252 |
rs2235982 | snp | C/T | 0.0970103 | 0.197722 | intron-variant | PHF1 | GRCh38.p7 | 6:33413027 | AGAGGTTAAGGGACT[C/T]GTCCGAGGTCATATG | 5252 |
rs3106196 | snp | G/T | 0.0922461 | 0.193943 | intron-variant | PHF1 | GRCh38.p7 | 6:33415166 | GAGCAGGGGGAACCC[G/T]ATGGAGCAAATGGTG | 5252 |
rs3116713 | snp | A/G | 0.0922941 | 0.193982 | missense, nc-transcript-variant | PHF1 | GRCh38.p7 | 6:33414511 | GAGAACGTTCTTCCA[A/G]GCTCCTCTCTGCTCT | 5252 |
rs4457156 | snp | A/G | 0.00764807 | 0.061364 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33411441 | GAGCCCCGAATTTGA[A/G]GGTGACCTGACATAA | 5252 |
rs4470839 | snp | C/G/T | 3.29457e-05 | 0.00405854 | missense, upstream-variant-2KB, utr-variant-3-prime | KIFC1, PHF1 | GRCh38.p7 | 6:33409647 | CCCCCTGCCCCCAGG[C/G/T]GAACCAGTGTGTTAT | 5252 |
rs6934613 | snp | A/T | 0 | 0 | missense, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33412387 | GTGCTGGCCAGATGG[A/T]CTGATGGGCTGCTAT | 5252 |
rs9282516 | in-del | -/TGGGGCTAACAGCGAGTGGAGGGCGGGGC | | | upstream-variant-2KB, downstream-variant-500B | PHF1, KIFC1 | GRCh38.p7 | 6:33410582 | CGGGGAGGGCGGGGC[lengthTooLong]GCGCGAGGGAGGAGG | 5252 |
rs10531042 | in-del | -/TG | 0.49995 | 0.00499176 | intron-variant | PHF1 | GRCh38.p7 | 6:33414640 | ACCCACCTGGAAGAC[-/TG]TGACTGAAAAGGATT | 5252 |
rs11543058 | snp | A/G | 0.00164701 | 0.0286495 | missense, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416765 | TCGGCCACTTCGTAA[A/G]GGTGCACAGAACTAC | 5252 |
rs34581314 | in-del | -/G | | | frameshift-variant, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33412520 | AGGTGGACAGTGCTA[-/G]GGGAGGTGTGTCTGG | 5252 |
rs34705269 | in-del | -/A | | | utr-variant-3-prime, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409761 | GTGTGTGTCCCTATG[-/A]TCTATGTATCGGGTG | 5252 |
rs35103775 | in-del | -/C | | | frameshift-variant, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33414973 | CCCTTCAGGGCAGGG[-/C]CCTGGGGGAGGGGTC | 5252 |
rs35768190 | snp | A/C | 0.0140508 | 0.0826316 | synonymous-codon, nc-transcript-variant, missense | PHF1 | GRCh38.p7 | 6:33414255 | CAGGGTGGATGTGGC[A/C]CATCTTGTCCTGTAT | 5252 |
rs35985571 | in-del | -/G | | | splice-acceptor-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33413735 | CTGTGTTCCCCCTCA[-/G]GTGGAACCTGAAAAT | 5252 |
rs41267645 | snp | C/T | 0.00522586 | 0.050849 | synonymous-codon, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33412705 | TCTCACAGCTGCCCT[C/T]CCTGGAGAGGAACTC | 5252 |
rs41267647 | snp | A/G | 0.188196 | 0.24224 | intron-variant | PHF1 | GRCh38.p7 | 6:33414680 | GCGTAAGGAGGAACC[A/G]TTTTTTACAGCACTG | 5252 |
rs41267649 | snp | C/T | 0.0398229 | 0.135372 | missense, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416696 | GACTCTGTGACCTGG[C/T]GCACCCACTGCAGGT | 5252 |
rs57440415 | in-del | -/GT | | | utr-variant-3-prime, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409753 | TGTGTGTGTGTGTGT[-/GT]CCCTATGTCTATGTA | 5252 |
rs57991968 | snp | C/T | 0.127599 | 0.217986 | intron-variant, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33408811 | TGTTGGGATTATAGG[C/T]GTGAGCCACCCAGCC | 5252 |
rs58223929 | in-del | -/GTGT | | | utr-variant-3-prime, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409751 | TGTGTGTGTGTGTGT[-/GTGT]CCCTATGTCTATGTA | 5252 |
rs73416053 | snp | C/G | 0.5 | 0 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33411325 | CGGGCTGGGCCGACA[C/G]AAGTCCCTTCTCGGA | 5252 |
rs73416054 | snp | A/G | 0.0287627 | 0.116422 | intron-variant | PHF1 | GRCh38.p7 | 6:33413305 | CACCAAGGTAAAGGC[A/G]CTTCCCTGTTACCCT | 5252 |
rs73741833 | snp | C/T | 0.0162398 | 0.0886349 | intron-variant, upstream-variant-2KB, utr-variant-3-prime, downstream-variant-500B | KIFC1, PHF1 | GRCh38.p7 | 6:33410007 | TCGTCTTTTCTCCCC[C/T]CTGCTATCACCGGTT | 5252 |
rs73741834 | snp | A/G | 0.0040646 | 0.0448974 | intron-variant | PHF1 | GRCh38.p7 | 6:33414904 | TATAGAGATGGGGAG[A/G]TCTTGGGGGTGTCCG | 5252 |
rs76139322 | snp | A/G | 0.0490535 | 0.14873 | intron-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415743 | CTCTTAGTCTCTAAC[A/G]CTGTTTCTCTGATTC | 5252 |
rs76915106 | snp | G/T | | | synonymous-codon, missense, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415107 | GCCCGCTCCCTCTGC[G/T]CCTGGGGCTCGGGCT | 5252 |
rs78862138 | snp | A/G | 0.0259427 | 0.110898 | synonymous-codon, missense, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415041 | AGCCCCTGAGGAGGA[A/G]GCAGAAGGGGAAAGT | 5252 |
rs111426477 | snp | A/C/T | 0 | 0 | splice-donor-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415146 | AGAGGGCACTGCAGG[A/C/T]ACTGGAGCAGGGGGA | 5252 |
rs111685107 | snp | A/G/T | 0 | 0 | splice-donor-variant | PHF1 | GRCh38.p7 | 6:33414111 | CTACAGCTTCGCTGG[A/G/T]GAGCTGGATTGGGCA | 5252 |
rs111693043 | snp | A/C/G/T | 0.0154538 | 0.0865337 | utr-variant-3-prime, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409745 | TGTGTGTGTGTGTGT[A/C/G/T]TGTGTGTGTCCCTAT | 5252 |
rs111979550 | snp | C/T | 0 | 0 | intron-variant, upstream-variant-2KB, missense | KIFC1, PHF1 | GRCh38.p7 | 6:33409496 | GCAGAGGAGAACAAA[C/T]CATAACTGGCACCAG | 5252 |
rs112250701 | snp | A/G/T | 0 | 0 | intron-variant | PHF1 | GRCh38.p7 | 6:33415147 | TTCCCCCTGCTCCAG[A/G/T]ACCTGCAGTGCCCTC | 5252 |
rs112889929 | snp | A/C | 0.5 | 0 | intron-variant, upstream-variant-2KB, downstream-variant-500B | KIFC1, PHF1 | GRCh38.p7 | 6:33410306 | GCCTTTCCGTTCGAA[A/C]GGCTGGGGCTCTGCC | 5252 |
rs112910184 | snp | G/T | | | upstream-variant-2KB, downstream-variant-500B | PHF1, KIFC1 | GRCh38.p7 | 6:33410570 | GCGCGACTCGTCACG[G/T]GGAGGGCGGGGCGCG | 5252 |
rs112930472 | snp | C/G/T | 0 | 0 | intron-variant | PHF1 | GRCh38.p7 | 6:33414112 | TACAGCTTCGCTGGT[C/G/T]AGCTGGATTGGGCAT | 5252 |
rs113107925 | snp | C/T | 0.097727 | 0.198275 | intron-variant | PHF1 | GRCh38.p7 | 6:33412965 | CATGGAAAGGGGTGG[C/T]ATAACCTTTGCAGGC | 5252 |
rs113133874 | snp | C/T | 0.0980852 | 0.198549 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33412126 | AAGATTGTGCCACTG[C/T]ACTCTGGCCTGGGCG | 5252 |
rs113648187 | snp | A/C/G/T | 1.64735e-05 | 0.00286993 | splice-donor-variant, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416919 | ATCTCAAAGTTCTCA[A/C/G/T]CGAACAAAATCTGTC | 5252 |
rs113688166 | snp | C/G | 0 | 0 | splice-donor-variant | PHF1 | GRCh38.p7 | 6:33412590 | AAGACATTAGCCCTG[C/G]TAAGACTCTAGAGAC | 5252 |
rs113697385 | snp | A/C | 0 | 0 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33411991 | CATGGCCAACACCTC[A/C]TCTCTACTAAAAATA | 5252 |
rs113984757 | in-del | -/C | 0.5 | 0 | downstream-variant-500B, utr-variant-3-prime, nc-transcript-variant | CUTA, PHF1 | GRCh38.p7 | 6:33416285 | CTTCATGATTCCTGA[-/C]CCCCTCCCATCCTTC | 5252 |
rs114197798 | snp | A/G | 0.000972738 | 0.0220323 | missense, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33413249 | CCTGGAGAGGGAGAG[A/G]GCACATCCTGGGTAT | 5252 |
rs114485144 | snp | C/T | 0.0379877 | 0.132479 | intron-variant | KIFC1 | GRCh38.p7 | 6:33408659 | ATTGAGTTGATATCC[C/T]AGCAGCTTCCAAAGG | 5252 |
rs115894428 | snp | C/G | 0.0205511 | 0.0992634 | downstream-variant-500B, utr-variant-3-prime, nc-transcript-variant | CUTA, PHF1 | GRCh38.p7 | 6:33416284 | TCCTTCATGATTCCT[C/G]ACCCCTCCCATCCTT | 5252 |
rs116199362 | snp | C/G | 0.0502897 | 0.150386 | intron-variant | PHF1 | GRCh38.p7 | 6:33415178 | CCCGATGGAGCAAAT[C/G]GTGGGGTGTGGGAAG | 5252 |
rs137983869 | in-del | -/AA | 0.0379877 | 0.132479 | intron-variant | PHF1 | GRCh38.p7 | 6:33413126 | TTAAATGAGATGGGT[-/AA]AGACTATTCCTGTCC | 5252 |
rs138002129 | snp | A/G/T | 4.94453e-05 | 0.00497198 | intron-variant | PHF1 | GRCh38.p7 | 6:33414561 | TGAGTTGGAGGGAAG[A/G/T]GGAGGCAAGGATGAG | 5252 |
rs138236983 | snp | A/G | 0.00023354 | 0.0108035 | missense, nc-transcript-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33412289 | CCCCCCGGCTGAGCC[A/G]CTCTGGTGCCTCCTC | 5252 |
rs138332034 | snp | C/G | 0.000399281 | 0.0141238 | intron-variant | PHF1 | GRCh38.p7 | 6:33413136 | TGGGTAAAGACTATT[C/G]CTGTCCCAATACCAA | 5252 |
rs138574267 | snp | C/G | 1.64991e-05 | 0.00287215 | stop-gained, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416681 | ATAGAGTCAGAAACT[C/G]ACTCTGTGACCTGGC | 5252 |
rs138734488 | snp | A/G | 5.08281e-05 | 0.00504098 | missense, synonymous-codon, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415870 | AAGTGCCCCCCACTC[A/G]ATGACTGCCTCATCT | 5252 |
rs139202558 | snp | A/C | 0.0241627 | 0.107227 | intron-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415378 | TGCTCCCAATTATTC[A/C]CATCTTCTGGACTTT | 5252 |
rs139787773 | snp | C/G | 1.65861e-05 | 0.00287972 | missense, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415127 | AGGGAGCGGGCTCAT[C/G]TGCAGAGGGCACTGC | 5252 |
rs140068887 | snp | C/G | 0.000115307 | 0.00759211 | missense, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416932 | CACCGAACAAAATCT[C/G]TCAAAGCTGGGACCA | 5252 |
rs140101976 | snp | A/G | 1.64999e-05 | 0.00287222 | missense, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33413448 | CCCTATGCCCGGGCC[A/G]TGCTGGGTATGAAGC | 5252 |
rs140266539 | snp | A/C | 1.78867e-05 | 0.00299049 | synonymous-codon, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415096 | AGTGCGCAATCAGCC[A/C]GAGCCCCAGGAGCAG | 5252 |
rs140386895 | snp | C/T | 0.000153988 | 0.00877328 | missense, synonymous-codon, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415593 | CTCCAACCCCAGCAG[C/T]CCCATCCGGATGTTT | 5252 |
rs141011458 | snp | C/G | 0.000115328 | 0.0075928 | missense, synonymous-codon, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415650 | CGCAGGGACCTCTGG[C/G]GACAGTGGACCCCCA | 5252 |
rs141157797 | snp | A/C/G | 0.000548148 | 0.0165463 | missense, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415097 | GTGCGCAATCAGCCC[A/C/G]AGCCCCAGGAGCAGA | 5252 |
rs141218981 | in-del | -/G | 0.0528381 | 0.153711 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33411705 | ACTAGGTTTGGGGTC[-/G]GGGGGGAGGGCTGTT | 5252 |
rs141323325 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant, upstream-variant-2KB, utr-variant-3-prime, downstream-variant-500B | KIFC1, PHF1 | GRCh38.p7 | 6:33410134 | CTTGGTCACTAGTTA[C/T]AGGTAACTTTCACCC | 5252 |
rs141510460 | snp | A/G | 6.65225e-05 | 0.00576687 | utr-variant-3-prime, missense, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415950 | CTTCTCCCCTGTGCC[A/G]TAGTTTGTCTCCTGG | 5252 |
rs141684599 | snp | C/G | 0.00118538 | 0.0243163 | missense, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416953 | GCTGGGACCAAGGAA[C/G]TTTGGGTTTTAATCA | 5252 |
rs142622704 | snp | A/T | 0.00358779 | 0.0422022 | utr-variant-3-prime, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409867 | GTTTGGTTTTTTTTT[A/T]AAATAAAGGTTTTAT | 5252 |
rs142630097 | snp | A/T | 4.94303e-05 | 0.00497119 | stop-gained, missense, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415606 | AGCCCCATCCGGATG[A/T]TTGCTTCCTTCCACC | 5252 |
rs143261073 | snp | A/G | 0.000307953 | 0.0124049 | synonymous-codon, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33412422 | GGGTACCATCAAAAA[A/G]GTAAGACCTTCTACC | 5252 |
rs143277706 | snp | C/T | | | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33411995 | GCCAACACCTCATCT[C/T]TACTAAAAATACAAA | 5252 |
rs143366591 | snp | A/G | 0.00914312 | 0.0669923 | intron-variant | PHF1 | GRCh38.p7 | 6:33414165 | ACAGTATTTCACTCT[A/G]TATGCCCCAACCTCC | 5252 |
rs143414026 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | KIFC1 | GRCh38.p7 | 6:33408480 | TGGATCTTTATTTCA[C/T]TAAGGGGTTTCTAAA | 5252 |
rs144032908 | snp | C/T | 3.29451e-05 | 0.00405851 | missense, nc-transcript-variant, synonymous-codon | PHF1 | GRCh38.p7 | 6:33414069 | GAATGCTGTGTGTGT[C/T]GCGGGGGCCCTGAGA | 5252 |
rs144092437 | in-del | -/C | 0.0252325 | 0.109451 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33411429 | CCCGGGGGCAGGGAG[-/C]CCCGAATTTGAGGGT | 5252 |
rs144359180 | snp | A/C/T | 9.88735e-05 | 0.00703051 | synonymous-codon, missense, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416737 | CCCCTGTTCCACAGG[A/C/T]AATGCAATTACCTCG | 5252 |
rs144660213 | in-del | -/C | | | intron-variant | PHF1 | GRCh38.p7 | 6:33413334 | TTCCTGTGGGAGCCT[-/C]CCCATCCACAGCCTC | 5252 |
rs144977635 | snp | A/G | 0.0260105 | 0.111035 | intron-variant, upstream-variant-2KB, utr-variant-3-prime, downstream-variant-500B | KIFC1, PHF1 | GRCh38.p7 | 6:33410197 | GTTCCTTTGGTGGGT[A/G]TCGGCAAATGGGGAC | 5252 |
rs145646205 | snp | C/T | 0.0232847 | 0.105357 | intron-variant, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33408984 | GAGACCATCCTAACA[C/T]GGTGAAACCCCGTCT | 5252 |
rs146564319 | snp | A/C/T | 0.00398691 | 0.0444912 | intron-variant, upstream-variant-2KB, utr-variant-3-prime, downstream-variant-500B | KIFC1, PHF1 | GRCh38.p7 | 6:33409944 | GAGCTGTGATCTGTA[A/C/T]CCTCTGCCAAACGTT | 5252 |
rs146745688 | snp | C/T | 0.000642435 | 0.017911 | intron-variant, synonymous-codon, nc-transcript-variant, missense, utr-variant-3-prime | PHF1 | GRCh38.p7 | 6:33415288 | TTACCAGGGCAGCAG[C/T]GGCTACAACTTCCGG | 5252 |
rs146797571 | snp | G/T | 0.0209421 | 0.100162 | intron-variant, upstream-variant-2KB | PHF1 | GRCh38.p7 | 6:33412070 | GGGAGACTGAGGCAG[G/T]AGAATTGCCTGAACC | 5252 |
rs147032936 | snp | A/G | 5.04316e-05 | 0.00502128 | utr-variant-3-prime, missense, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33416022 | GAGGGGACCCTGTCC[A/G]GGTCCTTGCTCGGAG | 5252 |
rs147529537 | snp | C/T | 0.000480121 | 0.0154864 | synonymous-codon, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33413287 | GTGTGTCTTTGCGAT[C/T]GCCACCAAGGTAAAG | 5252 |
rs148447005 | snp | A/G | 0.00159617 | 0.0282053 | intron-variant, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33409078 | GGAGTCTGAGGCAGA[A/G]TGGCTTGAACCCGGG | 5252 |
rs149582323 | snp | C/T | 0.000297015 | 0.0121827 | synonymous-codon, nc-transcript-variant, utr-variant-5-prime | PHF1 | GRCh38.p7 | 6:33412344 | TCCCACCTCTGGCCC[C/T]AGGCCTCGGCTTTGG | 5252 |
rs149602053 | snp | A/G | 1.65119e-05 | 0.00287327 | intron-variant | PHF1 | GRCh38.p7 | 6:33413169 | ACACACAGGTATGCA[A/G]TAAGTGGTCTACTAT | 5252 |
rs149752386 | snp | A/G | 0.0232847 | 0.105357 | intron-variant, upstream-variant-2KB | KIFC1, PHF1 | GRCh38.p7 | 6:33408980 | GATCGAGACCATCCT[A/G]ACACGGTGAAACCCC | 5252 |
rs149902794 | snp | A/T | 2.76308e-05 | 0.0037168 | synonymous-codon, missense, nc-transcript-variant, intron-variant | PHF1 | GRCh38.p7 | 6:33415065 | GGAAAGTGGAGGAGC[A/T]GGGGCCACCCTCAGC | 5252 |
rs149930961 | snp | C/T | 9.99983e-05 | 0.0070703 | utr-variant-3-prime, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416613 | GAAGGCGTTGAAGTA[C/T]CGCGGGGATCTTCAT | 5252 |
rs150208032 | snp | A/G | 0.00086143 | 0.0207358 | synonymous-codon, missense, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415829 | CCCCTGGAACTTCAC[A/G]TTGGTTTCCCCACAG | 5252 |
rs150475632 | snp | A/C | 0.00478085 | 0.0486577 | intron-variant | PHF1 | GRCh38.p7 | 6:33413090 | GATAATGCACCCCCT[A/C]ATCAAGACCATGGTC | 5252 |
rs150662033 | snp | C/T | 0.000494087 | 0.0157099 | synonymous-codon, nc-transcript-variant, missense | PHF1 | GRCh38.p7 | 6:33414330 | TGAGATCCTCCCCTT[C/T]ACTTCTGAGAATTGG | 5252 |
rs150787838 | snp | C/T | 0.00174477 | 0.0294846 | intron-variant, synonymous-codon, nc-transcript-variant, missense, utr-variant-3-prime | PHF1 | GRCh38.p7 | 6:33415267 | ATCCCCCAGCCCTAA[C/T]CAGAGTTACCAGGGC | 5252 |
rs150982256 | snp | A/C/T | 3.29518e-05 | 0.00405894 | synonymous-codon, missense, nc-transcript-variant, downstream-variant-500B | PHF1 | GRCh38.p7 | 6:33415615 | CGGATGTTTGCTTCC[A/C/T]TCCACCCTTCTGCCA | 5252 |
rs180850031 | snp | C/T | 0.00318978 | 0.0398085 | intron-variant, upstream-variant-2KB, downstream-variant-500B | KIFC1, PHF1 | GRCh38.p7 | 6:33410322 | GGCTGGGGCTCTGCC[C/T]GCTCGCTGCCCATTG | 5252 |
rs181301885 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant, downstream-variant-500B | CUTA, PHF1 | GRCh38.p7 | 6:33416861 | GCAAGCCCTAGACTG[C/T]CCAGCAAGTCACACC | 5252 |