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
RS1554106756 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554106830 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554107096 DSP Health Risk Likely pathogenic Cardiomyopathy, dilated
RS1554107097 DSP Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554107098 DSP Health Risk Pathogenic Cardiomyopathy, dilated
RS1554107107 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554107200 HARS1 Health Risk Likely pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W
RS1554107526 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554107590 ADGRV1 Health Risk Pathogenic —
RS1554107624 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1554107651 DSP Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1554107741 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554107839 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554107916 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554108012 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108050 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108152 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS1554108163 CYFIP2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 65
RS1554108170 DSP Health Risk Likely pathogenic —
RS1554108172 DSP Health Risk Pathogenic/Likely pathogenic Ventricular arrhythmia, Right ventricular cardiomyopathy
RS1554108211 PDGFRB Health Risk Pathogenic Acroosteolysis-keloid-like lesions-premature aging syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS1554108280 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1554108283 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554108287 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Primary dilated cardiomyopathy
RS1554108389 PDGFRB Health Risk Pathogenic Myofibromatosis, infantile
RS1554108410 DSP Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS1554108431 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy
RS1554108477 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108609 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108610 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
RS1554108621 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108854 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108859 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554108929 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554109181 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554109187 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1554109203 HARS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Charcot-Marie-Tooth disease type 2W, Usher syndrome type 3B
RS1554109247 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554109285 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1554109307 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1554109707 FLT4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554110673 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554110735 TFAP2A Health Risk Pathogenic 13 conditions, Branchiooculofacial syndrome
RS1554110980 DDX41 Health Risk Pathogenic —
RS1554110994 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554111073 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS1554111533 DDX41 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554111653 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1554111683 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS1554111717 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554111734 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554111749 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554111751 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554111768 TFAP2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TFAP2A-related disorder
RS1554112069 MEF2C Health Risk Pathogenic —
RS1554112492 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1554112524 ERGIC1 Health Risk Pathogenic Arthrogryposis multiplex congenita 2, neurogenic type
RS1554112848 ADGRV1 Health Risk Pathogenic —
RS1554114025 CPLANE1 Health Risk Pathogenic —
RS1554116357 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1554117456 CPLANE1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Joubert syndrome and related disorders
RS1554117507 CPLANE1 Health Risk Pathogenic —
RS1554117973 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1554119274 CAMK2A Health Risk Pathogenic Intellectual disability, autosomal recessive 63
RS1554119321 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1554119814 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554119819 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554120215 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS1554120331 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1554120489 SYNGAP1 Health Risk Pathogenic —
RS1554120498 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554120589 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554120894 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554120939 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554120941 SYNGAP1 Health Risk Pathogenic —
RS1554120966 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554120974 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1554120978 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121105 DCDC2 Health Risk Pathogenic Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66
RS1554121164 SYNGAP1 Health Risk Pathogenic —
RS1554121189 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121202 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Intellectual disability
RS1554121206 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1554121207 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121211 SYNGAP1 Health Risk Pathogenic —
RS1554121228 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121245 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121265 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1554121273 SYNGAP1 Health Risk Pathogenic —
RS1554121295 SYNGAP1 Health Risk Pathogenic —
RS1554121344 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1554121353 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554121364 SYNGAP1 Health Risk Likely pathogenic —
RS1554121365 SYNGAP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554121404 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554121438 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121443 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1554121453 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1554121665 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1554121671 SYNGAP1 Health Risk Likely pathogenic Motor delay, Delayed speech and language development
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