HIRA
SNP - dbSNP
dbSNPTypeAllelesHetSe(het)Fxn-classGene NameAssemblyChr-posSequenceEntrez Gene
rs20550snpC/T0.003704330.0428771synonymous-codonHIRAGRCh38.p722:19383643AAGAATCACGCCTCT[C/T]TGCATAGCACAGCTG7290
rs728782snpC/T00intron-variantHIRAGRCh38.p722:19414617CTCCTGGGAACACTT[C/T]CTGCACTGCCCAATA7290
rs737810snpA/G0.2925230.246357intron-variantHIRAGRCh38.p722:19360676GGCACCATGGCAGGA[A/G]AGGCCTAGATACTAT7290
rs756652snpG/T0.4499790.150028intron-variantHIRAGRCh38.p722:19358477CTGCCTTGAGGGGAG[G/T]GACAGAGAGTGGGAG7290
rs768620snpG/T00intron-variantHIRAGRCh38.p722:19370510ctgtagtcaatccta[G/T]cattctgggaggccg7290
rs885981snpA/G0.2953430.245854intron-variantHIRA, LOC105372859GRCh38.p722:19350110cagcatgaaatagca[A/G]cctgccagtattcta7290
rs885982snpC/T0.0890840.191327intron-variantHIRA, LOC105372859GRCh38.p722:19350678TTCATGACACCTCTG[C/T]GCCAACTCTGCCAAG7290
rs916594snpC/G0.4507340.149016intron-variantHIRAGRCh38.p722:19362067aattatgcctcaaaa[C/G]taaaggagaaataat7290
rs916595snpA/G0.4268130.17674intron-variantHIRAGRCh38.p722:19400545TATCCTTCCAGATAC[A/G]ATCCTTTAGAATCAC7290
rs986703snpC/G0.2914930.246533intron-variantHIRA, LOC105372859GRCh38.p722:19347290AACCAAGGATTTCCA[C/G]ATAGGGTAAAATGTC7290
rs1008241snpC/G0.4078450.193868intron-variantHIRAGRCh38.p722:19411129GCCTAGACAGAAGGA[C/G]TGCTATTTGTCTTTT7290
rs1008246snpA/G/T0.006767370.0577909intron-variantHIRAGRCh38.p722:19385274AGAAGGATAAAATTC[A/G/T]TAAGTTCTTACAAGA7290
rs1009787snpG/T0.4155630.18732intron-variantHIRAGRCh38.p722:19385261TACGAATTTTATCCT[G/T]CTGGTCTTTCTAAAA7290
rs1058472snpA/C00missense, intron-variantHIRA, LOC105372859GRCh38.p722:19331526GAGCTGCTGAAGGAG[A/C]TGCTACCAGTCATCG7290
rs1128399snpC/T0.1862860.241745utr-variant-5-prime, upstream-variant-2KB, missenseMRPL40, HIRAGRCh38.p722:19432586TGCGAAGTATCTCGC[C/T]AGCCCTGCGCCCGAC7290
rs1136028snpA/G0.0021570.0327696synonymous-codonHIRAGRCh38.p722:19356246GAAAGAAGAGTCTCT[A/G]CACTCCATCCTGGCA7290
rs1136029snpA/TmissenseHIRAGRCh38.p722:19354014GACCGTTAGCCATAA[A/T]CCAGGGCCGCACCTC7290
rs1210690snpC/T0.1217860.214619utr-variant-3-prime, intron-variantHIRA, LOC105372859GRCh38.p722:19331099GCTGAAGCAGCATGG[C/T]GCCTGCAGCAGCAGG7290
rs1210691snpC/T0.09305680.194599intron-variant, downstream-variant-500BHIRA, LOC105372859GRCh38.p722:19334471gtctggccaacatgg[C/T]gaaaccccatctcta7290
rs1210692snpC/T0.08799710.190408intron-variant, downstream-variant-500BHIRA, LOC105372859GRCh38.p722:19334485gcgaaaccccatctc[C/T]actaaaaatacaaaa7290
rs1210693snpC/T0.2940640.246086intron-variant, downstream-variant-500BHIRA, LOC105372859GRCh38.p722:19334514aaattaggccaggcg[C/T]ggtggctcacgccta7290
rs1210694snpG/T0.1973930.244402intron-variantHIRA, LOC105372859GRCh38.p722:19334898gtttttctgccttct[G/T]ttgaatgaatgtatt7290
rs1210695snpC/T0.2958540.245759intron-variantHIRA, LOC105372859GRCh38.p722:19334987gctttgggatttgta[C/T]gtgtatgtgcatgag7290
rs1210696snpC/G0.08872190.191022intron-variantHIRA, LOC105372859GRCh38.p722:19335544gccaccgcgccGAAC[C/G]AGAACTTTTTTACAT7290
rs1210697snpA/G0.1973930.244402intron-variantHIRA, LOC105372859GRCh38.p722:19337785aggtaacctatacac[A/G]aaagcctatcggatt7290
rs1210698snpC/G0.0318250.122064intron-variantHIRA, LOC105372859GRCh38.p722:19338669gcagaaatagctatt[C/G]ttatatcagacaaaa7290
rs1210699snpC/T0.08872190.191022intron-variantHIRA, LOC105372859GRCh38.p722:19339472aaaccccgtctctat[C/T]aaaaatagaaaaaaa7290
rs1210700snpC/G0.2958540.245759intron-variantHIRA, LOC105372859GRCh38.p722:19340139aaaatactacctaat[C/G]gaatcaaatggtgta7290
rs1210701snpA/G0.2963640.245663intron-variantHIRA, LOC105372859GRCh38.p722:19340221gaagacttaacgtac[A/G]catgtcaataaatga7290
rs1210702snpC/T0.2023430.245416intron-variantHIRA, LOC105372859GRCh38.p722:19340415cagttgactttatac[C/T]gaaaagggaaaagat7290
rs1210703snpA/T0.2955990.245806intron-variantHIRA, LOC105372859GRCh38.p722:19340899tggaaacacatctaa[A/T]gctcatggtaggtaa7290
rs1210704snpA/G0.2953430.245854intron-variantHIRA, LOC105372859GRCh38.p722:19342448ctggaatgcagtggc[A/G]cgatctcggctcact7290
rs1210705snpC/T0.2953430.245854intron-variantHIRA, LOC105372859GRCh38.p722:19342607tggctgtgctggtct[C/T]gaactcctgacctca7290
rs1210706snpC/T0.2948320.245947intron-variantHIRA, LOC105372859GRCh38.p722:19344151AAAAAGAACTATACC[C/T]AAAGCTAGCAgaaga7290
rs1210708snpC/T0.1573110.232183intron-variantHIRA, LOC105372859GRCh38.p722:19347400AAATGTTAGCATCTG[C/T]AGCTGATATCTGAGA7290
rs1210709snpA/C0.2963640.245663intron-variantHIRA, LOC105372859GRCh38.p722:19348091AAACTAGCCTCTATA[A/C]CAGCTGGCACCCAGC7290
rs1210710snpA/G0.2953430.245854intron-variantHIRA, LOC105372859GRCh38.p722:19349074taggcatgagccacc[A/G]cgcctggcctgatac7290
rs1210711snpC/T0.2922660.246401intron-variantHIRAGRCh38.p722:19352112TGGGGTCCACTTTTA[C/T]ACTAGATTCCTCCTT7290
rs1210712snpC/T0.3637760.222609intron-variantHIRAGRCh38.p722:19355025CAATCCTCTCAGCCT[C/T]CCACAGCGCTGGGAT7290
rs1210713snpG/T00intron-variantHIRAGRCh38.p722:19355365GATAAGCATCCTTAC[G/T]AATTCACTGAGGAAG7290
rs1210714snpA/C/T0.1994460.252842intron-variantHIRAGRCh38.p722:19357701AGGCTGGAGCTCAGA[A/C/T]GCAGGCAGGGGTAGC7290
rs1210715snpC/T0.297890.24537intron-variantHIRAGRCh38.p722:19357770GGCCACCCAGAGCCC[C/T]GCTTTGTGTCACTTC7290
rs1210716snpC/G0.2981440.245321intron-variantHIRAGRCh38.p722:19358691AAAGCATTTACATGG[C/G]ACCTCATGGCAGATG7290
rs1473108snpA/G0.2902010.246747intron-variantHIRAGRCh38.p722:19420074tgtgtgtgtgtgCAC[A/G]CGCCACAAACTAAAG7290
rs1473109snpC/T0.4153990.187465intron-variantHIRAGRCh38.p722:19420432gatcacgccactgca[C/T]tgcagcctgggcaac7290
rs1548360snpA/T00intron-variantHIRAGRCh38.p722:19382816ATCATTTTGGGAAGA[A/T]TAACCAATTCAAAAA7290
rs1807459snpC/G0.08872190.191022intron-variantHIRAGRCh38.p722:19396307gatcacctgaggtca[C/G]gagttcgagaccagc7290
rs2013516snpC/T0.4170340.18601intron-variantHIRAGRCh38.p722:19385133TCCCTACCCTTTTCC[C/T]GCCCCATTTCCAACC7290
rs2023639snpC/T0.08872190.191022intron-variantHIRAGRCh38.p722:19360207GCCGAGGGCTGACTG[C/T]CCCCTTCACAGACCC7290
rs2051670snpC/T0.3304820.236691intron-variantHIRAGRCh38.p722:19377107GTAGGCCTGTATGAG[C/T]CCTGTGGAGGGTACC7290
rs2073753snpC/G00intron-variantHIRAGRCh38.p722:19396970GAAAAAAGGAATGTG[C/G]AGAGGTGTTGTCTGA7290
rs2073773snpG/T0.2950880.245901intron-variantHIRAGRCh38.p722:19375095AACTACAACCTGCGT[G/T]ATGTCACAGCTGTGT7290
rs2097602snpG/T00intron-variantHIRAGRCh38.p722:19422904cctatatccaggctg[G/T]ggacacgggagtaaa7290
rs2097605snpC/T0.1123070.208664intron-variantHIRAGRCh38.p722:19388601AATTACTGAAATCCC[C/T]TTCTGTATTCAGCTC7290
rs2106142snpG/T00intron-variantHIRAGRCh38.p722:19413783CGCCCAGCTAATTTT[G/T]GTATTTTTAGTAGAA7290
rs2106144snpC/T0.03298360.124112intron-variantHIRAGRCh38.p722:19395036AAAGGGTGGTGAGGA[C/T]ACCCGCAAGGGAGAA7290
rs2106145snpC/T0.4147410.188044intron-variantHIRAGRCh38.p722:19395328AGCTCTCAGCCTAGG[C/T]GACAGAACCACCCCC7290
rs2238763snpC/T0.3608420.224085intron-variantHIRAGRCh38.p722:19354665ATACAAAGATGCCTA[C/T]AGAGAGTCAATATTT7290
rs2238764snpC/T0.05208250.152737intron-variantHIRAGRCh38.p722:19360635TGAGGTACAAGGGTA[C/T]GCAGAGAGGCAGCAG7290
rs2238765snpC/T0.05208250.152737intron-variantHIRAGRCh38.p722:19360758GAATTGTGTTTTGGA[C/T]AACCACATGCTTACA7290
rs2238766snpG/T0.2986510.24522intron-variantHIRAGRCh38.p722:19360876GATTATGACCACACA[G/T]TCCCACAGACACCAA7290
rs2238767snpC/T0.4184910.184691intron-variantHIRAGRCh38.p722:19398500AATGCCTGGCACAGT[C/T]AGAACTCCAGGGCTG7290
rs2238768snpC/T0.2920080.246445intron-variantHIRAGRCh38.p722:19399110GGTCCGCTGTGACGA[C/T]GGTGCCAACCTTGCC7290
rs2239392snpA/G0.4145760.188188intron-variantHIRAGRCh38.p722:19386391TAGTGACTGCTGTAC[A/G]TGAAAGTGCATGAGG7290
rs2277837snpA/C0.4246590.17887upstream-variant-2KB, utr-variant-5-primeMRPL40, HIRAGRCh38.p722:19432328AGGCGCGCTCCCAGC[A/C]CAGGGCGGGGACGGA7290
rs2283648snpG/T0.001994810.0315187intron-variantHIRA, LOC105372859GRCh38.p722:19347404GTTAGCATCTGCAGC[G/T]GATATCTGAGAAGAT7290
rs2283649snpA/G0.4611480.133852intron-variantHIRA, LOC105372859GRCh38.p722:19347926CCCGGGTGACAGAGC[A/G]AGACTCCGTCTCAAA7290
rs2283650snpG/T0.4536970.14494intron-variantHIRA, LOC105372859GRCh38.p722:19350889CTCTTCTCCTTGGGT[G/T]TCATCCGCAGTGTCC7290
rs2283651snpC/T0.1635640.234582intron-variantHIRAGRCh38.p722:19374128ACCTGAGGTCAGGAG[C/T]TTGAGACCAGCGTGG7290
rs2283652snpC/T0.477090.104548intron-variantHIRAGRCh38.p722:19374619TCCAGACATGCAGTT[C/T]TGGACAGGGCTTTTC7290
rs2283653snpA/G0.4153990.187465intron-variantHIRAGRCh38.p722:19423915TAAGGCTTGGGCAGA[A/G]TGTTTCCCCTCATCA7290
rs2285334snpC/T0.2994110.245069intron-variantHIRAGRCh38.p722:19377763TTCTTTCTTTTTTGA[C/T]TGAAGGGGCCACAAA7290
rs2871026snpC/T0.4489630.151372intron-variantHIRAGRCh38.p722:19391200gtgcagcaacataca[C/T]gaatctcaaaaacac7290
rs2871027snpC/T0.447680.153045intron-variantHIRAGRCh38.p722:19393808TTCTCACAGATTATT[C/T]GCAACTACTTAACAG7290
rs2871028snpC/G0.4550240.143057intron-variantHIRAGRCh38.p722:19416059tagaacaacagaata[C/G]agagcccagaaataa7290
rs3080867in-del-/GCCCTGGC0.415070.187755intron-variantHIRAGRCh38.p722:19396088AGTCTCCTCCATCCT[-/GCCCTGGC]CCCCAACAAGCTGCT7290
rs3080880in-del-/TTAT/TTATTTAT0.50intron-variantHIRAGRCh38.p722:19413630TATTTATTTATTTAT[-/TTAT/TTATTTAT]AGACAGAGTTTCGCT7290
rs3214093in-del-/A/GA0.000560790.0167356intron-variantHIRAGRCh38.p722:19410790TTGCCTGGAAACAAA[-/A/GA]AAAAAAAATACAGTA7290
rs3747062snpA/C/G/T0.09728240.20146intron-variantHIRAGRCh38.p722:19387977TTGGCCTGGGCGGGG[A/C/G/T]GGGGAGGGGGCGACA7290
rs3747063snpC/T0.1625810.234218intron-variant, utr-variant-5-prime, upstream-variant-2KBMRPL40, HIRAGRCh38.p722:19433040GTTCAAGCAGTTCTG[C/T]CCCGGCCTCCCGAGT7290
rs3747064snpA/T0.0161990.0885272intron-variant, utr-variant-5-prime, upstream-variant-2KBMRPL40, HIRAGRCh38.p722:19433255TTATACATACTCTTG[A/T]ATCTTTCAGGCTTCT7290
rs3788297snpC/T0.03277780.123752intron-variantHIRAGRCh38.p722:19404547GACTCAATCTATGGC[C/T]GCCACCAAGATGGGT7290
rs3788298snpA/G0.290460.246704intron-variantHIRAGRCh38.p722:19405005GCTTCAAAGCTTTTA[A/G]TGGCTCCCTATCTCT7290
rs3833376in-del-/GTGGCCTGGTTCCCTTCTintron-variantHIRAGRCh38.p722:19387944TCCTGGTTCCCTTCT[-/GTGGCCTGGTTCCCTTCT]TTGGCCTGGGCGGGG7290
rs3885488snpC/Gintron-variantHIRA, LOC105372859GRCh38.p722:19335384ggtggcacatgcctg[C/G]agtcccagctactca7290
rs3885565snpG/Tintron-variantHIRAGRCh38.p722:19397401GCAGGCATGCAAGCT[G/T]TAGAGACCGGAGTTT7290
rs3885567snpC/Tintron-variantHIRAGRCh38.p722:19397400CAGGCATGCAAGCTT[C/T]AGAGACCGGAGTTTT7290
rs3885568snpA/Tintron-variantHIRAGRCh38.p722:19397399AGGCATGCAAGCTTT[A/T]GAGACCGGAGTTTTA7290
rs4479520snpC/T0.1175370.212022intron-variantHIRAGRCh38.p722:19411314ACAGTTTGTACTCTA[C/T]GTTAAATTAGCTGTT7290
rs4585115snpG/T0.08872190.191022upstream-variant-2KB, utr-variant-5-primeMRPL40, HIRAGRCh38.p722:19432432CGGGGGCGGGGACAG[G/T]CGCGTCCCAGCCCAC7290
rs4594539snpA/G0.0890840.191327intron-variantHIRAGRCh38.p722:19418396ttgggaggctgaggc[A/G]ggtggatcatgaggt7290
rs4819801snpA/G00intron-variantHIRAGRCh38.p722:19390732TGAAATGGACTAATA[A/G]AGGCGTCAGCTTTCT7290
rs4819802snpG/Tintron-variantHIRAGRCh38.p722:19390961ggtactatttttttg[G/T]ttttttttttaattt7290
rs5746723snpA/G0.4976410.0342639intron-variantHIRA, LOC105372859GRCh38.p722:19341828aagacttaaatctac[A/G]atctgaaaccacaac7290
rs5746725snpC/T0.3260350.238157intron-variantHIRAGRCh38.p722:19369990tcttgtttcgttttg[C/T]ttttgttttttgaga7290
rs5746726snpA/G0.3272110.237778intron-variantHIRAGRCh38.p722:19370256gccTGttttgttttt[A/G]ttcttgttttgagac7290
rs5746727snpC/T0.2981440.245321intron-variantHIRAGRCh38.p722:19371259GGGGGGACTCCTCTC[C/T]ATTGCCCTGTCTTCA7290
rs5746728snpA/T0.3267410.23793intron-variantHIRAGRCh38.p722:19374306aggacaatagacata[A/T]gccacaacacctgga7290
rs5746729snpC/T0.1723510.237636intron-variantHIRAGRCh38.p722:19379976ACCACGCCCAGCTAA[C/T]TTTTATATTTTTTAG7290
rs5746731snpA/G0.08872190.191022intron-variantHIRAGRCh38.p722:19384256ctgaaccagggagtc[A/G]gaggttgcagtgagc7290
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