SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2146420485 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2146420510 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146420554 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146420616 PRPF31 Health Risk Pathogenic —
RS2146420831 PRPF31 Health Risk Pathogenic —
RS2146421085 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146421194 PRPF31 Health Risk Pathogenic —
RS2146421305 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146421348 PRPF31 Health Risk Pathogenic —
RS2146421585 PRPF31 Health Risk Conflicting classifications of pathogenicity —
RS2146421764 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS2146422618 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146422656 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146423140 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146423728 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146424948 PRPF31 Health Risk Likely pathogenic —
RS2146425748 PRPF31 Health Risk Pathogenic —
RS2146425937 PRPF31 Health Risk Pathogenic —
RS2146426154 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146427112 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146427417 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146427557 NLRP2 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS2146427772 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146427913 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146428203 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146428393 ARL2BP Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa with or without situs inversus
RS2146430397 ARL2BP Health Risk Likely pathogenic —
RS2146430688 TMPRSS3 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2146434180 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2146436212 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS2146436261 PRPF31 Health Risk Pathogenic —
RS2146436400 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146436807 PDGFB Health Risk Pathogenic —
RS2146436884 PRPF31 Health Risk Pathogenic —
RS2146437002 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146438016 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2146438052 HNF4A Health Risk Likely pathogenic —
RS2146439342 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2146440365 KMT2B Health Risk Likely pathogenic KMT2B-related disorder, KMT2B-related disorder
RS2146443608 PRPF31 Health Risk Likely pathogenic —
RS2146444340 PRPF31 Health Risk Pathogenic —
RS2146445593 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2146445734 PRPF31 Health Risk Pathogenic —
RS2146445759 PRPF31 Health Risk Pathogenic —
RS2146445800 PRPF31 Health Risk Pathogenic —
RS2146445865 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2146446330 KMT2B Health Risk Pathogenic —
RS2146448317 TMPRSS3 Health Risk Pathogenic —
RS2146448409 KMT2B Health Risk Pathogenic —
RS2146448773 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2146449761 PRPF31 Health Risk Pathogenic —
RS2146449768 PRPF31 Health Risk Pathogenic —
RS2146449804 PRPF31 Health Risk Pathogenic —
RS2146449862 PRPF31;PRPF31-AS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 11
RS2146449983 PRPF31 Health Risk Pathogenic —
RS2146450050 PRPF31 Health Risk Pathogenic —
RS2146450161 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146450184 PRPF31 Health Risk Pathogenic —
RS2146450721 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146451944 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146452391 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS2146452576 TMPRSS3 Health Risk Pathogenic —
RS2146453060 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146454464 MIB1 Health Risk Likely pathogenic —
RS2146455000 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2146455415 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146455513 KMT2B Health Risk Likely pathogenic —
RS2146458114 PRPF31 Health Risk Pathogenic/Likely pathogenic —
RS2146459243 PDGFB Health Risk Pathogenic —
RS2146459766 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dystonia 28
RS2146461810 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2146462970 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2146464332 NAA20 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 73
RS2146467115 KMT2B Health Risk Pathogenic —
RS2146467548 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2146468685 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2146468805 KMT2B Health Risk Pathogenic —
RS2146469485 KMT2B Health Risk Likely pathogenic Dystonic disorder, Dystonic disorder
RS2146470550 KMT2B Health Risk Pathogenic —
RS2146471012 TNRC6B Health Risk Pathogenic Global developmental delay with speech and behavioral abnormalities, Global developmental delay with speech and behavioral abnormalities
RS2146471495 SIK1 Health Risk Likely pathogenic —
RS2146471651 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146472496 ITCH Health Risk Likely pathogenic —
RS2146473230 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2146473376 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146474333 SMARCA4 Health Risk Pathogenic —
RS2146474742 MIB1 Health Risk Likely pathogenic —
RS2146475644 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146479981 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2146481256 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS2146481783 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2146482963 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2146483064 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS2146483253 RFXANK Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2146486142 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146489987 CYP24A1 Health Risk Likely pathogenic Hypercalcemia, infantile
RS2146492780 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2146493181 RFXANK Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2146496053 RFXANK Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2146496372 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
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