SNP - dbSNP |
dbSNP | Type | Alleles | Het | Se(het) | Fxn-class | Gene Name | Assembly | Chr-pos | Sequence | Entrez Gene |
rs732739 | snp | C/T | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25434520 | CCAGAAGAATTAACA[C/T]TATTTCTATTTAAGG | 7337 |
rs734127 | snp | G/T | 0.225301 | 0.248777 | intron-variant | UBE3A | GRCh38.p7 | 15:25433909 | TCTCCACAAAAAAAT[G/T]AAAAAATAAAAAAAT | 7337 |
rs734238 | snp | A/C | 0.030665 | 0.119967 | intron-variant | UBE3A | GRCh38.p7 | 15:25414192 | GAACTCACTCTGCCT[A/C]ATCTCACTGTCCTGG | 7337 |
rs757438 | snp | A/T | 0.492582 | 0.0604491 | intron-variant | UBE3A | GRCh38.p7 | 15:25376492 | CTCTACAAACTTTTT[A/T]AAAAAAAATTAGCCA | 7337 |
rs1041933 | snp | A/G | 0.49423 | 0.0534032 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25409602 | TATATCTGGGTTTTA[A/G]TCAGTCCTTCAACAC | 7337 |
rs1059383 | snp | G/T | 0 | 0 | missense | UBE3A | GRCh38.p7 | 15:25371314 | ATTTGTTCATTATCG[G/T]AATGGAGAATAGAAA | 7337 |
rs1063209 | snp | C/T | 0 | 0 | intron-variant | UBE3A | GRCh38.p7 | 15:25419320 | TGTCCATCTATCCAT[C/T]CTGTCTTCTTCTAGT | 7337 |
rs1116423 | snp | C/T | 0.166506 | 0.235645 | intron-variant | UBE3A | GRCh38.p7 | 15:25402560 | tggtgctggggtggg[C/T]ctccaagcttggttt | 7337 |
rs1557832 | snp | C/T | 0.493748 | 0.0555599 | intron-variant | UBE3A | GRCh38.p7 | 15:25358606 | GTAGAGCTTAGAAAT[C/T]AGAAATCAAATTATA | 7337 |
rs1557872 | snp | G/T | 0.31721 | 0.240796 | intron-variant | UBE3A | GRCh38.p7 | 15:25342844 | CAGAGCACTACTGAG[G/T]GTAGGTTAGAGCACT | 7337 |
rs1557873 | snp | C/T | 0.162581 | 0.234218 | intron-variant | UBE3A | GRCh38.p7 | 15:25343215 | AAGAAAAACAGAATT[C/T]GGAAGTCTAAATAAA | 7337 |
rs1557874 | snp | A/C | 0.162581 | 0.234218 | intron-variant | UBE3A | GRCh38.p7 | 15:25343337 | TAGTAACACCACATT[A/C]CAACACAAAAGGAGA | 7337 |
rs1804814 | snp | C/T | | | synonymous-codon | UBE3A | GRCh38.p7 | 15:25340125 | GGAGGACTAGGAAAA[C/T]TAAAGATGATTATAG | 7337 |
rs1859359 | snp | G/T | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25369222 | AAGTGAAATAAAAAG[G/T]GTACCAGAAAGCAAG | 7337 |
rs2066728 | in-del | -/AGT | 0.5 | 0 | intron-variant | UBE3A | GRCh38.p7 | 15:25354468 | TGTTTGTAATGATAC[-/AGT]AGTATAGCAGATAAC | 7337 |
rs2107455 | snp | C/T | 0.253264 | 0.249979 | intron-variant | UBE3A | GRCh38.p7 | 15:25342938 | GGAAGGCACCATGCA[C/T]GAAAGGAAGGGGGGT | 7337 |
rs2158305 | snp | A/C/G | 0.00874735 | 0.0655527 | intron-variant, utr-variant-5-prime | UBE3A | GRCh38.p7 | 15:25426497 | TGCAATATACTAAAA[A/C/G]AACTAAAGGTAGGTG | 7337 |
rs2158306 | snp | C/T | 0.489722 | 0.0709447 | intron-variant | UBE3A | GRCh38.p7 | 15:25435414 | CCAATAACCAATTCA[C/T]GCCTGCTCTAGTGCT | 7337 |
rs2248498 | snp | A/G | 0.0228947 | 0.104514 | intron-variant | UBE3A | GRCh38.p7 | 15:25358400 | TTTTCCTttttttta[A/G]tcttttattttttgg | 7337 |
rs2257252 | snp | G/T | 0.373397 | 0.217424 | upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25440615 | ATATGGAGATACTTA[G/T]AGGTATTCTTCCTTT | 7337 |
rs2283428 | snp | A/C | 0.00159617 | 0.0282053 | intron-variant | UBE3A | GRCh38.p7 | 15:25347073 | TGCTAGTGAGAAATT[A/C]TTTTTGTTTTTCTCT | 7337 |
rs2340625 | snp | C/G | 0.170084 | 0.236883 | intron-variant | UBE3A | GRCh38.p7 | 15:25394038 | TTCCTGCCTAGAACA[C/G]TATGATTCTTAGCTA | 7337 |
rs2524357 | snp | A/G | 0.0337553 | 0.125452 | intron-variant | UBE3A | GRCh38.p7 | 15:25390536 | agtcaagctgaaagg[A/G]ctatatactgtatga | 7337 |
rs2526025 | snp | A/C | 0.369346 | 0.219673 | upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25440319 | CAATAAGCTAGAAGA[A/C]TTTAAGTTATTCCAG | 7337 |
rs2526026 | snp | A/T | 0.00398564 | 0.0444627 | intron-variant | UBE3A | GRCh38.p7 | 15:25346680 | cagcaaggaaacaag[A/T]tacaaggaaaaaaaa | 7337 |
rs2719878 | snp | C/T | 0.0333695 | 0.124785 | intron-variant | UBE3A | GRCh38.p7 | 15:25345363 | CTGACCTGGTCCATT[C/T]GGAAGTTATTCCCAG | 7337 |
rs2719879 | snp | A/C | | | intron-variant | UBE3A | GRCh38.p7 | 15:25344954 | aaaaataataataat[A/C]ataaCTATGTCGTTG | 7337 |
rs2719880 | snp | A/T | 0.0433465 | 0.140692 | intron-variant | UBE3A | GRCh38.p7 | 15:25366959 | ATTGTTTAaaaaaaa[A/T]aaataaataaataaa | 7337 |
rs2719881 | snp | A/C | 0.0225045 | 0.103662 | intron-variant | UBE3A | GRCh38.p7 | 15:25361580 | AAAATGCAGTATAAA[A/C]AGTTAATATTGGAAT | 7337 |
rs2719924 | snp | C/T | 0 | 0 | utr-variant-3-prime | UBE3A | GRCh38.p7 | 15:25337888 | ATCAGTAATGTAAAC[C/T]TACTTGTACTTTTCC | 7337 |
rs2839719 | snp | A/G | 0 | 0 | intron-variant, utr-variant-5-prime | UBE3A | GRCh38.p7 | 15:25426718 | AGACCACACTTGATA[A/G]AAAACTGTTGTTCTA | 7337 |
rs3043907 | in-del | -/TTAG | 0.5 | 0 | intron-variant | UBE3A | GRCh38.p7 | 15:25360831 | GTCTGGACTACACAG[-/TTAG]GACATGGAAAAGCAG | 7337 |
rs3043909 | in-del | -/AAGT | | | intron-variant | UBE3A | GRCh38.p7 | 15:25377974 | CTGGATGATGTGATT[-/AAGT]GAGTTTTAAAACTTC | 7337 |
rs3220254 | microsatellite | (CA)21/22/23/24/25/26/27/28/29 | 0.775462 | 0.107195 | intron-variant | UBE3A | GRCh38.p7 | 15:25434967 | TTTAAANTCTATATA[(CA)21/22/23/24/25/26/27/28/29]AAATACTAANTACCT | 7337 |
rs3784766 | snp | C/T | 0.0107246 | 0.0724382 | intron-variant | UBE3A | GRCh38.p7 | 15:25379106 | TGCTCGTAGATACTA[C/T]CATTTAAATTACGAG | 7337 |
rs3887213 | snp | C/T | 0.0123036 | 0.0774623 | intron-variant | UBE3A | GRCh38.p7 | 15:25397142 | ACCATTTCTCACATT[C/T]CTATATCTAGAAACT | 7337 |
rs4012491 | snp | A/C | 0.323197 | 0.239044 | intron-variant | UBE3A | GRCh38.p7 | 15:25389235 | TCTTTTTCAATAAAC[A/C]GTGGTAATAACTGAA | 7337 |
rs4445877 | snp | C/T | 0.49998 | 0.00319482 | intron-variant | UBE3A | GRCh38.p7 | 15:25350665 | tttattcacaatagt[C/T]ccaaactggaaacaa | 7337 |
rs4467052 | snp | C/T | 0.0832709 | 0.186283 | intron-variant | UBE3A | GRCh38.p7 | 15:25429888 | tgcacacctgtagtc[C/T]ctgctactcaggagg | 7337 |
rs4488416 | snp | A/G | 0.492533 | 0.0606443 | intron-variant | UBE3A | GRCh38.p7 | 15:25385994 | ACACTAGACTATTCC[A/G]GTCTTAACAAGGTTT | 7337 |
rs4906708 | snp | C/T | 0.494358 | 0.0528145 | intron-variant | UBE3A | GRCh38.p7 | 15:25372832 | ATCCTACCTCCATTG[C/T]GCCAAATATACCCTT | 7337 |
rs4906710 | snp | C/T | 0.0271762 | 0.113356 | intron-variant | UBE3A | GRCh38.p7 | 15:25401821 | gattcttttgtctgc[C/T]tgctcaattctgctt | 7337 |
rs4906711 | snp | C/T | 0.36315 | 0.222928 | intron-variant, utr-variant-5-prime | UBE3A | GRCh38.p7 | 15:25407678 | TAAACCAATCCAGTA[C/T]AGAAGAAGAAGGATT | 7337 |
rs5811380 | in-del | -/A | 0.166506 | 0.235645 | intron-variant | UBE3A | GRCh38.p7 | 15:25342640 | AAAATAAAAAAAAAA[-/A]CCTATGACTTAGGTC | 7337 |
rs5811381 | snp | A/C | 0.444444 | 0.157135 | intron-variant | UBE3A | GRCh38.p7 | 15:25369388 | ACAAAAAAAAAAAAA[A/C]CACACAAAATCTCTG | 7337 |
rs6420957 | snp | C/T | 0.0930568 | 0.194599 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25406396 | ATACTACTGCTCTCT[C/T]ATGTAGAAATATTTA | 7337 |
rs6420958 | snp | C/T | 0.0174175 | 0.0916809 | intron-variant | UBE3A | GRCh38.p7 | 15:25429353 | CATAATTTATATTTC[C/T]AGGTGGTGGATAAAT | 7337 |
rs6576419 | snp | A/G | 0.492727 | 0.0598633 | intron-variant | UBE3A | GRCh38.p7 | 15:25383596 | GTGAGGTGAGATAGC[A/G]TCATTGCACTCCAGC | 7337 |
rs6576421 | snp | A/T | 0 | 0 | intron-variant | UBE3A | GRCh38.p7 | 15:25399740 | cgcctggctttaaaa[A/T]tttttttttttttta | 7337 |
rs6576422 | snp | C/T | 0.0930568 | 0.194599 | intron-variant | UBE3A | GRCh38.p7 | 15:25403517 | cactagtggtagaaa[C/T]gcaaataggtacagt | 7337 |
rs6576423 | snp | G/T | 0.362732 | 0.22314 | intron-variant | UBE3A | GRCh38.p7 | 15:25432328 | ATAAAAATATATGAG[G/T]TGGGGTGTTGGCTAC | 7337 |
rs7163944 | snp | C/T | 0.499527 | 0.0153681 | intron-variant | UBE3A | GRCh38.p7 | 15:25396684 | GGTAAAATAAACATA[C/T]GAATAAATGAAAAGA | 7337 |
rs7164510 | snp | C/T | 0.0916144 | 0.193427 | intron-variant | UBE3A | GRCh38.p7 | 15:25366870 | TTTGTGGAGTATTAC[C/T]AGAAGTTCAGATTCA | 7337 |
rs7165149 | snp | A/C | 0.00366808 | 0.0426683 | intron-variant | UBE3A | GRCh38.p7 | 15:25405430 | GGGCAACTCAAAATA[A/C]GAACCACAGTCTCAA | 7337 |
rs7165929 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | UBE3A | GRCh38.p7 | 15:25402121 | ttcttgatccctgta[A/G]tcatgtgttggcacc | 7337 |
rs7166201 | snp | C/G | 0.0648419 | 0.167978 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25428669 | TATCCTTTTACCTAC[C/G]ATTCAGAATAATCAA | 7337 |
rs7166361 | snp | C/T | 0.00478085 | 0.0486577 | intron-variant | UBE3A | GRCh38.p7 | 15:25363066 | CTAGTCTTAGCTCTA[C/T]CTAAGACATGTCAAA | 7337 |
rs7166686 | snp | C/T | 0.166832 | 0.235761 | intron-variant | UBE3A | GRCh38.p7 | 15:25362689 | TCAAGCTACGGAGTA[C/T]ACAGAATTCTGAGGA | 7337 |
rs7167529 | snp | A/C | 0.471958 | 0.115042 | intron-variant | UBE3A | GRCh38.p7 | 15:25402244 | gcagcctgagtctac[A/C]ggggctggcctggag | 7337 |
rs7170449 | snp | C/T | 0.0119091 | 0.0762411 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25405693 | CATTTATTTTAAGGG[C/T]TGGACTATTAAAAAA | 7337 |
rs7171350 | snp | A/G | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25429123 | gacAGCGTTATACAT[A/G]TCTGTAAAAATTTAA | 7337 |
rs7173786 | snp | C/T | 0.168135 | 0.236216 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25422402 | aaaatgggtgcattt[C/T]attgtgtatcaatta | 7337 |
rs7174739 | snp | C/T | | | intron-variant | UBE3A | GRCh38.p7 | 15:25373601 | cctacctcagcctcc[C/T]aagtagctgggacta | 7337 |
rs7174751 | snp | C/T | | | intron-variant | UBE3A | GRCh38.p7 | 15:25373614 | cccaagtagctggga[C/T]tacagatgcacgcca | 7337 |
rs7175021 | snp | C/T | 0.077417 | 0.180873 | intron-variant | UBE3A | GRCh38.p7 | 15:25367226 | atgtaaatatttaca[C/T]atttgtaaatatgta | 7337 |
rs7175425 | snp | A/G | | | intron-variant | UBE3A | GRCh38.p7 | 15:25373594 | cgattctcctacctc[A/G]gcctcccaagtagct | 7337 |
rs7175426 | snp | A/G | | | intron-variant | UBE3A | GRCh38.p7 | 15:25373602 | ctacctcagcctccc[A/G]agtagctgggactac | 7337 |
rs7175559 | snp | A/G | 0.0777841 | 0.181223 | intron-variant | UBE3A | GRCh38.p7 | 15:25391606 | CCCAGAGAAAAAAGT[A/G]CATGTGAAATACTAC | 7337 |
rs7175773 | snp | C/G | 0.166832 | 0.235761 | intron-variant | UBE3A | GRCh38.p7 | 15:25391717 | AGGACAAGTCTCTAA[C/G]AGAAGGAAGAAAAGG | 7337 |
rs7175968 | snp | C/G | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25419997 | tagacaaatagaaaa[C/G]aaatagTGTcttaaa | 7337 |
rs7176461 | snp | A/C | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25419872 | tattgtaaatcctag[A/C]agtatcactgggggg | 7337 |
rs7176973 | snp | C/T | 0.35809 | 0.225425 | intron-variant | UBE3A | GRCh38.p7 | 15:25377249 | AAGAACTTTCACTCT[C/T]TGTCCAGGTAGGTGA | 7337 |
rs7178181 | snp | A/G | 0 | 0 | missense | UBE3A | GRCh38.p7 | 15:25356875 | CAAAACAATTTTGTA[A/G]ATTCATCGTATGTGA | 7337 |
rs7180167 | snp | C/T | | | intron-variant | UBE3A | GRCh38.p7 | 15:25373559 | tcggctcactgcaac[C/T]tctgcctcccgggtt | 7337 |
rs7180183 | snp | C/T | | | intron-variant | UBE3A | GRCh38.p7 | 15:25373588 | ttcaaacgattctcc[C/T]acctcagcctcccaa | 7337 |
rs7181129 | snp | A/G | 0.494358 | 0.0528145 | intron-variant | UBE3A | GRCh38.p7 | 15:25399472 | gacttccctttcccc[A/G]ctgtgttctttgcac | 7337 |
rs7182619 | snp | C/T | 0.166832 | 0.235761 | intron-variant | UBE3A | GRCh38.p7 | 15:25391807 | GTAAGGTGTTTTCAC[C/T]GAAGCTTTTGGGGTA | 7337 |
rs7182827 | snp | C/T | 0.19459 | 0.243782 | intron-variant | UBE3A | GRCh38.p7 | 15:25420142 | taaatgaccaataag[C/T]tgaaaataaaaacac | 7337 |
rs7402857 | snp | C/T | 0.231111 | 0.249285 | intron-variant | UBE3A | GRCh38.p7 | 15:25434971 | AATTCTATATACATA[C/T]ACACACACACACACA | 7337 |
rs7495556 | snp | A/G | 0.185788 | 0.241613 | intron-variant | UBE3A | GRCh38.p7 | 15:25430453 | GAGAGATTAGCCCCA[A/G]TTTCTCAAAATCTGG | 7337 |
rs7495632 | snp | A/G | 0.0832709 | 0.186283 | intron-variant | UBE3A | GRCh38.p7 | 15:25430691 | ATCCAGCAGTTACAA[A/G]TGCCTAAAACTGTAC | 7337 |
rs7496494 | snp | C/T | 0.0584853 | 0.160693 | intron-variant | UBE3A | GRCh38.p7 | 15:25393904 | GCTCCTGGCTTTCTA[C/T]ATCCAAATGCATTTT | 7337 |
rs7496951 | snp | C/G | 0.493013 | 0.058691 | intron-variant | UBE3A | GRCh38.p7 | 15:25426156 | TTAAGTGTTTTATTA[C/G]ATGACTTACCAGCAA | 7337 |
rs8023329 | snp | C/G | 0.0232847 | 0.105357 | intron-variant | UBE3A | GRCh38.p7 | 15:25357057 | TAGCACTTGAGAAAA[C/G]AATGTCCACATATAT | 7337 |
rs8024413 | snp | A/G | 0.167484 | 0.23599 | intron-variant | UBE3A | GRCh38.p7 | 15:25387467 | gcggagcttgcggtg[A/G]gccgagatcgagcca | 7337 |
rs8024421 | snp | A/T | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25387478 | ggtgagccgagatcg[A/T]gccactgcactccag | 7337 |
rs8024771 | snp | A/G | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25387741 | agccaggctaagaaa[A/G]agagacaaaggacaa | 7337 |
rs8024975 | snp | A/G | 0.00478085 | 0.0486577 | intron-variant | UBE3A | GRCh38.p7 | 15:25433424 | atctcctgatctcgt[A/G]atccgcccgcctcgg | 7337 |
rs8025093 | snp | A/C | 0.0410537 | 0.137264 | intron-variant | UBE3A | GRCh38.p7 | 15:25357803 | TAAACAAAGCTATTC[A/C]ATACACATGTTAATT | 7337 |
rs8025215 | snp | A/T | 0.00478085 | 0.0486577 | intron-variant | UBE3A | GRCh38.p7 | 15:25366331 | AGTCAATGAATAAAT[A/T]AAAGAATTACGTTCA | 7337 |
rs8025830 | snp | C/T | 0.0648419 | 0.167978 | intron-variant | UBE3A | GRCh38.p7 | 15:25433207 | AGTTTTTTTTTTTTT[C/T]TTTGAGAGGCAGTCT | 7337 |
rs8026555 | snp | C/T | 0.167484 | 0.23599 | intron-variant | UBE3A | GRCh38.p7 | 15:25384329 | agctgggcttggtgg[C/T]gcgcgcctgtaatcc | 7337 |
rs8026998 | snp | C/T | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25384016 | ggatataaaaaccaa[C/T]attaagaaaagagtt | 7337 |
rs8028635 | snp | C/T | 0.078151 | 0.181571 | intron-variant | UBE3A | GRCh38.p7 | 15:25436663 | TAGGTACCCAATAAA[C/T]CCTGTTAAATGGACT | 7337 |
rs8028644 | snp | C/T | 0.167158 | 0.235875 | intron-variant | UBE3A | GRCh38.p7 | 15:25401813 | tgagttcagattctt[C/T]tgtctgcttgctcaa | 7337 |
rs8029139 | snp | A/G | 0.164219 | 0.234823 | intron-variant | UBE3A | GRCh38.p7 | 15:25351595 | ctgcctcagcctccc[A/G]aggagctgggattac | 7337 |
rs8030729 | snp | A/G | | | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25406716 | CACACACACACACAC[A/G]CACACACACAAACCT | 7337 |
rs8030988 | snp | C/T | 0.00835141 | 0.0640778 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25405573 | GGTAGACATATTACT[C/T]AGGAAGACAATTTTG | 7337 |
rs8031756 | snp | C/T | 0.0930568 | 0.194599 | intron-variant | UBE3A | GRCh38.p7 | 15:25390864 | ggctatgagagaatc[C/T]atacatgtgtgtgga | 7337 |
rs8032479 | snp | C/G | 0.0648419 | 0.167978 | intron-variant, upstream-variant-2KB | UBE3A | GRCh38.p7 | 15:25406954 | CACAAAATTACATAA[C/G]AACTAAAAACTGGGG | 7337 |