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
RS2146359668 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146360319 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146360458 SMARCA4 Health Risk Pathogenic Intellectual disability, autosomal dominant 16
RS2146362916 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146362992 CBS Health Risk Likely pathogenic Homocystinuria, Classic homocystinuria
RS2146363405 KANSL1 Health Risk Pathogenic/Likely pathogenic See cases, Koolen-de Vries syndrome
RS2146366969 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146368271 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS2146370110 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146373286 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS2146373452 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146373508 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146374989 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375012 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375064 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375213 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375350 HNF4A Health Risk Likely pathogenic —
RS2146375487 HNF4A Health Risk Conflicting classifications of pathogenicity —
RS2146375662 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS2146375818 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375836 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375885 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375951 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146375964 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146376221 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146377060 TUBB1 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146377702 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146379302 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146379356 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146379725 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146380786 PRPF31;PRPF31-AS1;TFPT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa
RS2146381019 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146381604 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146383463 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146383561 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146383573 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146385603 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146385757 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2146387904 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146387963 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146388096 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2146389344 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2146392500 PRPF31 Health Risk Pathogenic —
RS2146392573 PRPF31 Health Risk Pathogenic —
RS2146392668 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146392811 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146392848 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146392922 MYH9 Health Risk Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS2146393019 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146393119 PRPF31 Health Risk Pathogenic —
RS2146393245 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146393282 PRPF31 Health Risk Pathogenic —
RS2146393621 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146393861 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146393934 PRPF31 Health Risk Pathogenic —
RS2146394096 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146394271 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146394968 CBS Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2146395543 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146406554 NOVA2 Health Risk Likely pathogenic Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS2146406674 NOVA2 Health Risk Pathogenic —
RS2146406775 NOVA2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2146407735 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146408539 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146409388 PRPF31 Health Risk Pathogenic —
RS2146409471 PRPF31 Health Risk Pathogenic —
RS2146409568 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa 11, Retinitis pigmentosa 11
RS2146409888 PRPF31 Health Risk Pathogenic —
RS2146409966 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146410280 RUNX1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146410489 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146410761 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146411947 HNF4A Health Risk Pathogenic —
RS2146412136 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS2146412304 CLDN14 Health Risk Pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS2146413207 PRPF31 Health Risk Pathogenic —
RS2146413215 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2146413305 PRPF31 Health Risk Pathogenic —
RS2146413337 PRPF31 Health Risk Pathogenic —
RS2146413440 PRPF31 Health Risk Pathogenic —
RS2146413580 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146413624 PRPF31 Health Risk Pathogenic —
RS2146413726 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS2146413876 CDC45 Health Risk Pathogenic —
RS2146413970 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146414477 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2146416371 SMARCA4 Health Risk Conflicting classifications of pathogenicity SMARCA4-related BAFopathy, Intellectual disability
RS2146417182 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146417384 SMARCA4 Health Risk Pathogenic Intellectual disability, autosomal dominant 16
RS2146417554 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2146417581 HNF4A Health Risk Pathogenic —
RS2146418475 PRPF31 Health Risk Likely pathogenic —
RS2146418544 PRPF31 Health Risk Pathogenic —
RS2146418683 PRPF31 Health Risk Pathogenic —
RS2146418714 PRPF31 Health Risk Pathogenic —
RS2146418999 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 11, Retinal dystrophy
RS2146419846 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2146420160 PRPF31 Health Risk Pathogenic Retinitis pigmentosa 11, Retinal dystrophy
RS2146420442 PRPF31 Health Risk Pathogenic —
RS2146420461 PRPF31 Health Risk Pathogenic —
« Prev 1 ... 1870 1871 1872 1873 1874 1875 1876 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →