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
RS121917722 PEPD Health Risk Pathogenic Prolidase deficiency, Melanoma
RS121917723 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS121917724 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS121917725 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS121917731 MCC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121917732 MCC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121917734 EPB42 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS121917735 MAF Health Risk Pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS121917736 MAF Health Risk Pathogenic Cataract 21 multiple types, Cataract 21 multiple types
RS121917737 SFTPA2 Health Risk Pathogenic/Likely risk allele Interstitial lung disease 2, Pulmonary fibrosis
RS121917738 SFTPA2 Health Risk Pathogenic Interstitial lung disease 2, Interstitial lung disease 2
RS121917739 RAD51 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer
RS121917740 REN Health Risk Pathogenic HYPERPRORENINEMIA, FAMILIAL
RS121917741 REN Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS121917742 REN Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS121917743 REN Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 2, Familial juvenile hyperuricemic nephropathy type 2
RS121917744 RPE65 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS121917745 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS121917746 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS121917747 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS121917749 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS121917750 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS121917751 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS121917752 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS121917753 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS121917755 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS121917756 HRAS Health Risk Pathogenic Myopathy, congenital
RS121917757 HRAS Health Risk Likely pathogenic Myopathy, congenital
RS121917758 HRAS Health Risk Pathogenic Costello syndrome, HRAS-related disorder
RS121917759 HRAS Health Risk Likely pathogenic Costello syndrome, Costello syndrome
RS121917760 TNNI3 Health Risk Likely pathogenic Cardiomyopathy, familial restrictive
RS121917761 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS121917762 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS121917763 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS121917764 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS121917765 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS121917766 KDR Health Risk Pathogenic Capillary infantile hemangioma, Capillary infantile hemangioma
RS121917767 UCHL1 Health Risk risk factor Parkinson disease 5, autosomal dominant
RS121917768 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917769 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917770 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917771 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917772 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917773 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917774 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS121917775 VIM Health Risk Pathogenic Cataract 30, Cataract 30
RS121917777 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS121917778 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS121917780 HSD11B2 Health Risk Pathogenic Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS121917781 HSD11B2 Health Risk Pathogenic Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS121917782 HSD11B2 Health Risk Pathogenic Apparent mineralocorticoid excess, mild
RS121917783 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS121917784 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS121917785 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS121917786 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Inborn genetic diseases
RS121917787 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS121917788 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS121917789 MVK Health Risk Pathogenic Mevalonic aciduria, Mevalonic aciduria
RS121917790 MVK Health Risk Likely pathogenic Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
RS121917807 PSEN1 Health Risk Likely pathogenic Alzheimer disease, familial
RS121917808 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Alzheimer disease 3
RS121917809 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Primary dilated cardiomyopathy
RS121917812 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS121917814 AMACR Health Risk Pathogenic/Likely pathogenic Alpha-methylacyl-CoA racemase deficiency, Congenital bile acid synthesis defect 4
RS121917815 ADIPOQ Health Risk Pathogenic Adiponectin deficiency, Adiponectin deficiency
RS121917816 AMACR Health Risk Pathogenic Congenital bile acid synthesis defect 4, Congenital bile acid synthesis defect 4
RS121917817 B4GALT7 Health Risk Likely pathogenic Ehlers-Danlos syndrome progeroid type, Spondylodysplastic Ehlers-Danlos syndrome
RS121917818 B4GALT7 Health Risk Pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS121917819 CDSN Health Risk Pathogenic Hypotrichosis 2, Hypotrichosis 2
RS121917820 CDSN Health Risk Pathogenic Hypotrichosis 2, Hypotrichosis 2
RS121917821 APOA5 Health Risk Pathogenic Familial type 5 hyperlipoproteinemia, Familial type 5 hyperlipoproteinemia
RS121917822 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS121917823 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS121917824 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS121917825 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS121917827 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS121917828 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS121917829 MC4R Health Risk Pathogenic Obesity due to melanocortin 4 receptor deficiency, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS121917830 EPOR Health Risk Likely pathogenic Primary familial polycythemia due to EPO receptor mutation, Acute megakaryoblastic leukemia without down syndrome
RS121917832 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS121917833 HSD11B2 Health Risk Conflicting classifications of pathogenicity Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS121917834 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS121917835 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS121917836 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS121917837 NEUROG3 Health Risk Pathogenic/Likely pathogenic Congenital malabsorptive diarrhea 4, NEUROG3-related disorder
RS121917838 NEUROG3 Health Risk Pathogenic/Likely pathogenic Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS121917839 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS121917840 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS121917841 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS121917842 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS121917843 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS121917844 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS121917845 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS121917846 SAR1B Health Risk Pathogenic Chylomicron retention disease, Chylomicron retention disease
RS121917847 TRHR Health Risk Pathogenic Hypothyroidism, congenital
RS121917849 TTPA Health Risk Pathogenic/Likely pathogenic ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA, Familial isolated deficiency of vitamin E
RS121917850 TTPA Health Risk Conflicting classifications of pathogenicity ATAXIA, FRIEDREICH-LIKE
RS121917851 TTPA Health Risk Pathogenic ATAXIA, FRIEDREICH-LIKE
RS121917852 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS121917853 IHH Health Risk Likely pathogenic Brachydactyly type A1, Brachydactyly type A1
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