SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs167870 | snp | C/T | 0 | 0 | intron-variant | UBE2B | GRCh38.p7 | 5:134389794 | tgtgggaggccgagg[C/T]gggcagatcacctga | 7320 |
rs328037 | snp | A/G | 0 | 0 | intron-variant | UBE2B | GRCh38.p7 | 5:134390211 | GACTAGGAGGAAAGA[A/G]AAGAAAAAACAGATT | 7320 |
rs328038 | snp | C/T | 0.0107246 | 0.0724382 | intron-variant | UBE2B | GRCh38.p7 | 5:134387103 | gcatggtagtgcatg[C/T]gtgtagtcccagcta | 7320 |
rs328044 | snp | A/T | 0.0337553 | 0.125452 | intron-variant | UBE2B | GRCh38.p7 | 5:134373483 | aattaaaatatattt[A/T]aaaaaaaaGAATTGA | 7320 |
rs763743 | snp | C/G | 0 | 0 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134369583 | ACTGATAAATTACAA[C/G]GGTTTTTTTGGTTGT | 7320 |
rs1053024 | snp | C/T | | | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134370694 | AGATAGTCTTTCTGC[C/T]TTGCAGTGGGGTTTC | 7320 |
rs1379247 | snp | A/G | 0.254105 | 0.249966 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134370921 | TATCACAGGTATAGA[A/G]ACAACATTACCCAAG | 7320 |
rs1803727 | snp | C/T | | | synonymous-codon | UBE2B | GRCh38.p7 | 5:134380789 | TGTTAGGTTTTTATC[C/T]AAAATGTTTCATCCA | 7320 |
rs2034881 | snp | A/C | 0.300421 | 0.244863 | intron-variant | UBE2B | GRCh38.p7 | 5:134381896 | ttgcagtgagctgag[A/C]tcacaacactgcact | 7320 |
rs2290619 | snp | A/C | 0.27278 | 0.24896 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134370321 | GGTGTTGACCTCCCA[A/C]AGACCTTGAATATTT | 7320 |
rs2569259 | snp | A/G | | | | | GRCh38.p7 | 5:134376412 | GCCCATAATTTTAGC[A/G]CAAAAAAACTTTCAT | 7320 |
rs3777373 | snp | A/G | 0.254105 | 0.249966 | utr-variant-3-prime | UBE2B | GRCh38.p7 | 5:134391612 | CCATAAAATTGGATT[A/G]CAGTATGGCAATATC | 7320 |
rs3834275 | in-del | -/T | 0.378372 | 0.214524 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134369606 | TTGGTTGTTGCGGGA[-/T]TTTTTTGAGGCAGGG | 7320 |
rs4958181 | snp | A/G | 0.0329836 | 0.124112 | intron-variant | UBE2B | GRCh38.p7 | 5:134378177 | cttgtctttaaaaaa[A/G]ttaccaatttttctt | 7320 |
rs4958232 | snp | A/G | 0.0252325 | 0.109451 | intron-variant | UBE2B | GRCh38.p7 | 5:134378544 | tgaggcatgagccac[A/G]cccagccgagtatct | 7320 |
rs4958233 | snp | C/T | 0.0329836 | 0.124112 | intron-variant | UBE2B | GRCh38.p7 | 5:134389457 | CCAAATTAAGCTGTT[C/T]ATTTCCTTGGTTTAA | 7320 |
rs4958234 | snp | C/T | 0.0322114 | 0.122752 | intron-variant | UBE2B | GRCh38.p7 | 5:134389625 | GCGATCTCAGCTCAC[C/T]GCAACCTCTGCCTCC | 7320 |
rs4958235 | snp | A/G | 0 | 0 | intron-variant | UBE2B | GRCh38.p7 | 5:134389727 | aattttgtattttta[A/G]aaattacggggtttt | 7320 |
rs6863127 | snp | G/T | 0.29278 | 0.246313 | intron-variant | UBE2B | GRCh38.p7 | 5:134384061 | ACATTTATATTTCTG[G/T]ATTATAAATTACCAT | 7320 |
rs6882633 | snp | A/G | 0.255503 | 0.249939 | intron-variant | UBE2B | GRCh38.p7 | 5:134384201 | GAGGTCCTCTTGGTC[A/G]TGTCTCTAGTACTGC | 7320 |
rs7701705 | snp | A/G | 0.254944 | 0.249951 | intron-variant | UBE2B | GRCh38.p7 | 5:134374948 | CAAGATCCTGTATCA[A/G]AAAAAAAAAGGAAAA | 7320 |
rs7702406 | snp | A/G | 0.254944 | 0.249951 | intron-variant | UBE2B | GRCh38.p7 | 5:134375119 | TATAAAACATATCAC[A/G]CAAATGCTCTCATTC | 7320 |
rs10039980 | snp | C/G | 0.0260105 | 0.111035 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134370860 | GGAATTATTTTTGGT[C/G]CCGGTTTAAAGAAAA | 7320 |
rs10477760 | snp | C/G/T | 0.0114096 | 0.0746633 | upstream-variant-2KB, intron-variant | CDKL3, UBE2B | GRCh38.p7 | 5:134372554 | CTGGGGACACCTGCC[C/G/T]TAATTGAACAAAATA | 7320 |
rs10477761 | snp | C/T | | | intron-variant | UBE2B | GRCh38.p7 | 5:134376366 | atatatatatatata[C/T]acatatgtaCAAAAT | 7320 |
rs11242213 | snp | G/T | 0.278133 | 0.248412 | intron-variant | UBE2B | GRCh38.p7 | 5:134384320 | CTTTGGCACTTCATT[G/T]CTGTGAAGTTGCTTT | 7320 |
rs11242214 | snp | A/G | 0.287346 | 0.247195 | intron-variant | UBE2B | GRCh38.p7 | 5:134384749 | CACTTAAATTGTACA[A/G]CTCAAATGGTTTTTA | 7320 |
rs11538104 | snp | A/C | 0.0103295 | 0.0711199 | utr-variant-3-prime | UBE2B | GRCh38.p7 | 5:134391361 | AATCTCCACAAGAAG[A/C]AGCAACTCAGCAGGC | 7320 |
rs11958874 | snp | C/T | 0 | 0 | upstream-variant-2KB, intron-variant | CDKL3, UBE2B | GRCh38.p7 | 5:134372443 | ATAGAAAATGATTAT[C/T]CCGTTGTTTACCTTT | 7320 |
rs12659320 | snp | C/G | 0.00119737 | 0.0244387 | intron-variant | UBE2B | GRCh38.p7 | 5:134382619 | tctctacaaaaaata[C/G]aaaaattagctgggc | 7320 |
rs13176258 | snp | G/T | | | intron-variant | UBE2B | GRCh38.p7 | 5:134390202 | AACTATGCAAATCTG[G/T]TTTTTCTTTTCTTTC | 7320 |
rs13178661 | snp | A/C | | | intron-variant | UBE2B | GRCh38.p7 | 5:134381682 | ggcatggtggctcat[A/C]cctataaactcagca | 7320 |
rs17167484 | snp | G/T | 0.283684 | 0.24772 | upstream-variant-2KB, utr-variant-5-prime | CDKL3, UBE2B | GRCh38.p7 | 5:134371303 | GAACACAAATTTGTC[G/T]ATTACTTCAGGAAGC | 7320 |
rs17706244 | snp | C/G | 0.0391387 | 0.134304 | upstream-variant-2KB, intron-variant | CDKL3, UBE2B | GRCh38.p7 | 5:134372709 | GGTAGGCGTCAAGCA[C/G]TGCAGTTCTTCTAAG | 7320 |
rs17839770 | snp | C/G | 0.239037 | 0.24976 | intron-variant | UBE2B | GRCh38.p7 | 5:134385714 | ATAAACACAAGGAAG[C/G]ATAAAGAAAATAAGA | 7320 |
rs28494624 | snp | A/G | 0.0283406 | 0.115616 | upstream-variant-2KB, intron-variant | CDKL3, UBE2B | GRCh38.p7 | 5:134372391 | CCTCCTTTGGTAAAT[A/G]AAATAGGGTTTTGTT | 7320 |
rs28604420 | snp | C/T | 0.0482946 | 0.147699 | intron-variant | UBE2B | GRCh38.p7 | 5:134381217 | GTGATCTGCCCACCT[C/T]GGCCTCCCAAAGTGC | 7320 |
rs33911714 | snp | C/T | 0.021333 | 0.101051 | intron-variant | UBE2B | GRCh38.p7 | 5:134384038 | ACATCTTGCTGTTTA[C/T]ATCTATTACATTTAT | 7320 |
rs34016810 | snp | C/G/T | 0.032077 | 0.122514 | intron-variant | UBE2B | GRCh38.p7 | 5:134378883 | GCAGTGCGCCAAGAT[C/G/T]GCACCATTGCACCCT | 7320 |
rs34114630 | snp | A/C | | | intron-variant | UBE2B | GRCh38.p7 | 5:134379645 | TGAGACTCTGTCTCA[A/C]CAAAAAAAAAAAAAA | 7320 |
rs34116834 | snp | G/T | 0.281577 | 0.247998 | intron-variant | UBE2B | GRCh38.p7 | 5:134378259 | TGAGTATCTATGTGG[G/T]TTTTTTTTGTTTGTT | 7320 |
rs34150493 | in-del | -/AAGT | 0.16771 | 0.236069 | intron-variant | UBE2B | GRCh38.p7 | 5:134384876 | GCTTCAGTCCTAGGT[-/AAGT]GTTACCCCTAACGTG | 7320 |
rs34166727 | snp | C/T | 0.239614 | 0.249784 | intron-variant | UBE2B | GRCh38.p7 | 5:134385809 | ACGAGGTCAGGACTT[C/T]GAGACTAGCCTGGCC | 7320 |
rs34176678 | snp | C/T | 0.0228947 | 0.104514 | intron-variant | UBE2B | GRCh38.p7 | 5:134382155 | CTAAAATTAAGCTTT[C/T]CAAAAATACAATTTT | 7320 |
rs34191552 | snp | C/T | 0.000399281 | 0.0141238 | intron-variant | UBE2B | GRCh38.p7 | 5:134382151 | TTGGCTAAAATTAAG[C/T]TTTTCAAAAATACAA | 7320 |
rs34205107 | snp | A/T | 0.239326 | 0.249772 | intron-variant | UBE2B | GRCh38.p7 | 5:134385849 | AAACCCCGTCTTTAC[A/T]AAAAATATAAAAAAT | 7320 |
rs34209292 | snp | A/G | 0.00358779 | 0.0422022 | intron-variant | UBE2B | GRCh38.p7 | 5:134386093 | GCACTTTGGGAGACC[A/G]AGGTGGGCAGATCAC | 7320 |
rs34229417 | snp | C/T | 0.0225045 | 0.103662 | intron-variant | UBE2B | GRCh38.p7 | 5:134374696 | CCAGCCTGGGCGATA[C/T]AGTGAGACAGTGAGA | 7320 |
rs34262210 | snp | A/G | 0.0228947 | 0.104514 | intron-variant | UBE2B | GRCh38.p7 | 5:134383522 | GAGTCTTGCTCTATC[A/G]GCCAGGCTGGAGTGC | 7320 |
rs34315266 | snp | A/G | 0.0228947 | 0.104514 | upstream-variant-2KB, intron-variant | CDKL3, UBE2B | GRCh38.p7 | 5:134372786 | ATTTTTTTAATGTGG[A/G]CTAGTTGCAAATTAT | 7320 |
rs34369152 | snp | A/G | 0.254944 | 0.249951 | intron-variant | UBE2B | GRCh38.p7 | 5:134377738 | TCGGGGGACCCATAC[A/G]ATCAAATCTCATCAT | 7320 |
rs34413467 | snp | A/G | 0.00279162 | 0.0372561 | intron-variant | UBE2B | GRCh38.p7 | 5:134376763 | AAAATTGTAACACCA[A/G]CATATCTACTTGAAG | 7320 |
rs34460975 | in-del | -/AAAGA | | | intron-variant | UBE2B | GRCh38.p7 | 5:134386024 | AAGAAAAAGAAAAGA[-/AAAGA]GGATCATCTGCTGGG | 7320 |
rs34553375 | snp | C/T | 0.0252325 | 0.109451 | upstream-variant-2KB, utr-variant-5-prime | CDKL3, UBE2B | GRCh38.p7 | 5:134371501 | CGGCGGCGGCGGCGG[C/T]GGCGATCCACAGTGA | 7320 |
rs34556130 | snp | A/G | 0.0023933 | 0.0345097 | utr-variant-3-prime | UBE2B | GRCh38.p7 | 5:134391860 | AGTCTCAGCTACTTA[A/G]GAGGCTGAGGTGGCA | 7320 |
rs34560116 | snp | A/G | 0.00398564 | 0.0444627 | intron-variant | UBE2B | GRCh38.p7 | 5:134382975 | ATCAAGACCATCCTG[A/G]TCAACGTGGTGAAAC | 7320 |
rs34566342 | in-del | -/C | | | intron-variant | UBE2B | GRCh38.p7 | 5:134376873 | AGCTTGGTCACCTCC[-/C]ATTGGTAACCAATAT | 7320 |
rs34591526 | snp | A/G | 0.0104709 | 0.0715948 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134370304 | AGGACGGTGACCACA[A/G]AAAATATTCAAGGTC | 7320 |
rs34599772 | snp | A/T | 0.00119737 | 0.0244387 | intron-variant | UBE2B | GRCh38.p7 | 5:134389261 | CCAGTTCTGGTCATC[A/T]TACAAGCGTTGTTTT | 7320 |
rs34611918 | snp | G/T | 0.0105817 | 0.0719645 | intron-variant | UBE2B | GRCh38.p7 | 5:134387812 | TAATTTTTTTACTTT[G/T]ATTTTTTTGAGACAG | 7320 |
rs34620273 | snp | A/C | 0.00835141 | 0.0640778 | utr-variant-3-prime | UBE2B | GRCh38.p7 | 5:134390749 | ATGAATATTACATGT[A/C]AAGCTGTTAAAATAC | 7320 |
rs34633156 | snp | A/G/T | 0.000133027 | 0.00815451 | intron-variant | UBE2B | GRCh38.p7 | 5:134388458 | TGTCAGTATTCTGTA[A/G/T]GATATAGTCAGCTCC | 7320 |
rs34660886 | snp | A/G | 0.000399281 | 0.0141238 | intron-variant | UBE2B | GRCh38.p7 | 5:134379097 | TGATAGTATATAATG[A/G]AATATGGCAACATTT | 7320 |
rs34688050 | snp | A/G | 0.0107246 | 0.0724382 | intron-variant | UBE2B | GRCh38.p7 | 5:134387906 | CTCCTGGGTTCAAGC[A/G]ATTCTCCTGCCTCAG | 7320 |
rs34723995 | snp | A/G | 0.00557542 | 0.0525036 | intron-variant | UBE2B | GRCh38.p7 | 5:134386869 | TGTATCATTTCTGGT[A/G]ATTGTGTTGCTATTG | 7320 |
rs34739487 | snp | C/T | 0.0611634 | 0.163831 | intron-variant | UBE2B | GRCh38.p7 | 5:134383649 | TATTTTTAGTAGAGA[C/T]GGGGTTTCACCATGT | 7320 |
rs34763898 | in-del | -/GCG | | | upstream-variant-2KB, utr-variant-5-prime | CDKL3, UBE2B | GRCh38.p7 | 5:134371505 | GCGGCGGCGGCGGCG[-/GCG]ATCCACAGTGATTCG | 7320 |
rs34771626 | snp | C/T | 0.0267878 | 0.112589 | intron-variant | UBE2B | GRCh38.p7 | 5:134384957 | CTTATACTATGTGGT[C/T]CTTTGTGACTGACTT | 7320 |
rs34778398 | snp | C/T | 0.0267878 | 0.112589 | intron-variant | UBE2B | GRCh38.p7 | 5:134386673 | AGATCATCCATAACC[C/T]TACTATTACAAATAT | 7320 |
rs34819166 | snp | C/T | 0.0129027 | 0.0792771 | upstream-variant-2KB, utr-variant-5-prime | CDKL3, UBE2B | GRCh38.p7 | 5:134371159 | CCCACCTCCTTTCCC[C/T]GAAATCTCTGGCCCG | 7320 |
rs34835090 | snp | A/C | 0.00199481 | 0.0315187 | upstream-variant-2KB, utr-variant-5-prime | CDKL3, UBE2B | GRCh38.p7 | 5:134371474 | GTTGTTTGTCAGTCT[A/C]GGCGGCGGCGGCGGC | 7320 |
rs34854574 | snp | A/G | 0.00874735 | 0.0655527 | intron-variant | UBE2B | GRCh38.p7 | 5:134387320 | TTTGTGCATGTCCAC[A/G]TTTATTTCCTTAATT | 7320 |
rs34872345 | in-del | -/CTTT | 0.0104709 | 0.0715948 | intron-variant | UBE2B | GRCh38.p7 | 5:134375355 | CTTGATCTATTTTTT[-/CTTT]CATTCCTTTGAAACT | 7320 |
rs34880639 | in-del | -/G | | | utr-variant-3-prime | UBE2B | GRCh38.p7 | 5:134391515 | TGGAAAATATACAAG[-/G]TAAATTCTGTTGAAC | 7320 |
rs34892347 | in-del | -/T | | | intron-variant | UBE2B | GRCh38.p7 | 5:134388808 | TCTGGCAGAATATTT[-/T]CAGAATAGATCTTTG | 7320 |
rs34928202 | snp | C/T | 0.00438332 | 0.0466095 | intron-variant | UBE2B | GRCh38.p7 | 5:134378575 | GTCTTTTTAATATTC[C/T]GTATGATATGAAGTA | 7320 |
rs34932225 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | UBE2B | GRCh38.p7 | 5:134388502 | AACCAATGGCAGAGC[C/T]TGGACAAGAATCCAT | 7320 |
rs34942973 | snp | A/C | 0.0228947 | 0.104514 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134370563 | ATACAATGGTACTCC[A/C]CCACCATAGGCAAGT | 7320 |
rs34974753 | snp | C/T | 0.273587 | 0.248885 | intron-variant | UBE2B | GRCh38.p7 | 5:134381089 | CTCCTGCCTCAGCCT[C/T]GTGAGTAGCTGGGAC | 7320 |
rs34976452 | snp | A/G | 0.273318 | 0.24891 | intron-variant | UBE2B | GRCh38.p7 | 5:134378122 | CTGCAGTGAGCCCTG[A/G]TGGAGCCACTGAGCT | 7320 |
rs34998539 | snp | C/T | 0.0228947 | 0.104514 | intron-variant | UBE2B | GRCh38.p7 | 5:134378380 | TTCTCGTGCCTCAGC[C/T]TTCCAAGTAGCTGGG | 7320 |
rs35000509 | snp | G/T | 0.00119737 | 0.0244387 | intron-variant | UBE2B | GRCh38.p7 | 5:134373866 | ATATGTGCCACATTT[G/T]CTTAGGCTAGTCTAT | 7320 |
rs35009649 | snp | A/G | 0.00119737 | 0.0244387 | intron-variant | UBE2B | GRCh38.p7 | 5:134379549 | TACCCCAGAGGCTGA[A/G]GCAGGAGAATTGCTT | 7320 |
rs35013287 | snp | A/G | 0.0486741 | 0.148216 | intron-variant | UBE2B | GRCh38.p7 | 5:134378875 | CAGAGGTTGCAGTGC[A/G]CCAAGATCGCACCAT | 7320 |
rs35045355 | snp | C/T | 0.00119737 | 0.0244387 | intron-variant | UBE2B | GRCh38.p7 | 5:134389092 | GAGTAGCTAGGACTA[C/T]AGGCACATGCTACCA | 7320 |
rs35069214 | snp | C/T | 0.0110494 | 0.0735024 | intron-variant | UBE2B | GRCh38.p7 | 5:134385173 | ATTGTTTTACACTTT[C/T]ATGGGTTTTACAGAG | 7320 |
rs35107813 | snp | A/G | 0.0228947 | 0.104514 | intron-variant | UBE2B | GRCh38.p7 | 5:134375279 | TTTTACCTACTATGT[A/G]TATTGCGTATATGCT | 7320 |
rs35174708 | snp | C/T | 0.00755907 | 0.0610114 | intron-variant, upstream-variant-2KB | CDKL3, UBE2B | GRCh38.p7 | 5:134369328 | AGTCTCTGAATTCCT[C/T]ACCTCTATTGCCTCC | 7320 |
rs35186293 | snp | C/T | 0.240478 | 0.249819 | intron-variant | UBE2B | GRCh38.p7 | 5:134387020 | GCTGGAGTGCAGTGG[C/T]GTGATCTGAGCTCAC | 7320 |
rs35190809 | snp | C/T | 0.0104709 | 0.0715948 | intron-variant | UBE2B | GRCh38.p7 | 5:134379194 | TGAATGGGTAAAACA[C/T]GTATGTGAAGTGAAC | 7320 |
rs35267168 | snp | C/T | 0.0182019 | 0.0936463 | intron-variant | UBE2B | GRCh38.p7 | 5:134384472 | TGCTTAGACTTGTTA[C/T]TGAGTCAAACCAAAC | 7320 |
rs35323714 | snp | C/T | 0.00557542 | 0.0525036 | intron-variant | UBE2B | GRCh38.p7 | 5:134377145 | ATCATTTTGCATAAT[C/T]TTTGGCATCTCAAGT | 7320 |
rs35324177 | snp | C/T | 0.0103295 | 0.0711199 | upstream-variant-2KB, intron-variant | CDKL3, UBE2B | GRCh38.p7 | 5:134372721 | GCAGTGCAGTTCTTC[C/T]AAGGCTTCTGTTCGT | 7320 |
rs35324424 | in-del | -/G | 0.5 | 0 | intron-variant | UBE2B | GRCh38.p7 | 5:134377621 | TATCTGTGGGGGGGG[-/G]TAAGGAGTTGAAGGA | 7320 |
rs35344851 | snp | A/G | 0.0298908 | 0.118541 | intron-variant | UBE2B | GRCh38.p7 | 5:134383645 | TTTATATTTTTAGTA[A/G]AGACGGGGTTTCACC | 7320 |
rs35381740 | snp | A/G | 0.0263992 | 0.111815 | intron-variant | UBE2B | GRCh38.p7 | 5:134387443 | ATGTGTGTTGAAGAA[A/G]TTTAACTCAAAGCCT | 7320 |
rs35391257 | snp | A/G | 0.0119091 | 0.0762411 | intron-variant | UBE2B | GRCh38.p7 | 5:134382365 | AGGCTGAGGTGAGAG[A/G]ATCACTTGAGCCCAG | 7320 |
rs35402099 | snp | A/C | 0.0103295 | 0.0711199 | intron-variant | UBE2B | GRCh38.p7 | 5:134378534 | CCCGAAGTGCTGAGG[A/C]ATGAGCCACGCCCAG | 7320 |
rs35406150 | snp | G/T | 0.031825 | 0.122064 | utr-variant-3-prime | UBE2B | GRCh38.p7 | 5:134391346 | TGTTTTAATGCCAGG[G/T]CCTGCTGAGTTGCTT | 7320 |
rs35408571 | snp | C/G | 0.217851 | 0.247924 | intron-variant | UBE2B | GRCh38.p7 | 5:134388143 | TTTGGAGGGAACATT[C/G]AAACCATAGCAGGTG | 7320 |