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
RS1956120794 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956120988 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956121988 PKP2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1956125716 MYO7A Health Risk Pathogenic —
RS1956127429 MYO7A Health Risk Pathogenic —
RS1956130442 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956149175 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956152029 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1956192035 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1956192249 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956234424 TCTN2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Meckel syndrome
RS1956235509 TCTN2 Health Risk Pathogenic Meckel syndrome, type 8
RS1956373944 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1956374971 PKP2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1956375263 ABCC8 Health Risk Pathogenic —
RS1956378850 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956391008 ABCC8 Health Risk Pathogenic —
RS1956391770 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956451687 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS1956451830 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1956455734 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1956459967 EHMT1 Health Risk Conflicting classifications of pathogenicity —
RS1956460756 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS1956462432 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS1956480240 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956485578 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956496669 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956497065 MYO7A Health Risk Likely pathogenic —
RS1956561543 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1956563926 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS1956612435 CRADD Health Risk Likely pathogenic —
RS1956632157 ATP6V0A2 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1956643860 C2CD3 Health Risk Pathogenic —
RS1956646992 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1956657659 CEP63 Health Risk Likely pathogenic —
RS1956686080 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1956688410 PKP2 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1956689333 PKP2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1956690062 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1956710372 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1956759935 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956761177 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956761416 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956764279 HNRNPK Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1956765138 HNRNPK Health Risk Likely pathogenic —
RS1956767508 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1956768636 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS1956840371 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS1956843097 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956843263 MYO7A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 1
RS1956849074 MYO7A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1956852194 HNRNPK Health Risk Likely pathogenic —
RS1956854198 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1956866167 HNRNPK Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1956866547 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1956873230 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1956873853 PKP2 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1956875321 HNRNPK Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1956891911 NCKAP1L Health Risk Likely pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS1956891979 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1956910096 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1956912294 MYO7A Health Risk Likely pathogenic —
RS1956914257 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1956915416 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1956916004 MYO7A Health Risk Pathogenic —
RS1956917064 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS1956925123 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS1956933594 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1956934694 MYO7A Health Risk Likely pathogenic —
RS1956935335 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1956938352 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1956945634 PKP2 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1956947177 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1956954455 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1956954851 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS1956954911 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1956960386 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1956960817 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1956961224 NCKAP1L Health Risk Likely pathogenic Immunodeficiency 72 with autoinflammation, Immunodeficiency 72 with autoinflammation
RS1957009416 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1957010104 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1957026103 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1957027467 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957032734 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1957033825 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1957038706 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957043255 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957045038 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957048711 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957048901 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957051870 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957053765 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1957054299 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1957090242 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1957126844 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1957127300 MYO7A Health Risk Pathogenic —
RS1957127435 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1957129506 PKP2 Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1957135138 HNRNPK Health Risk Conflicting classifications of pathogenicity Au-Kline syndrome, Au-Kline syndrome
RS1957147183 ABCC8 Health Risk Pathogenic —
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