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
RS2536591821 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2536592915 RP1 Health Risk Pathogenic —
RS2536593200 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2536593359 RP1 Health Risk Pathogenic —
RS2536594780 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536600951 TUBB Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS2536604435 TUBB Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS2536604779 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS2536605120 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536605299 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536605481 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536605566 FLNC Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2536605624 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536605672 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536605694 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536605789 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536605831 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536606774 TUBB Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 6, Inborn genetic diseases
RS2536608099 TUBB Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 6, Complex cortical dysplasia with other brain malformations 6
RS2536608888 TUBB Health Risk Pathogenic —
RS2536609405 TUBB Health Risk Likely pathogenic —
RS2536614490 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2536614499 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2536614528 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536614690 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536614846 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536614894 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536617471 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536617485 FLNC Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2536617529 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536617647 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Distal myopathy with posterior leg and anterior hand involvement
RS2536617663 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536618234 FLNC Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS2536618454 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536618994 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536619879 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536620355 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536620835 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536620957 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536621092 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS2536621175 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536621359 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536622113 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536622150 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536622190 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536622272 FLNC Health Risk Pathogenic FLNC-related disorder, Distal myopathy with posterior leg and anterior hand involvement
RS2536622343 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536622622 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536622666 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536624682 FLNC Health Risk Pathogenic Tetralogy of Fallot, Distal myopathy with posterior leg and anterior hand involvement
RS2536624821 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536624837 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536624852 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536626103 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2536626193 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536626302 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536626315 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536627048 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536627146 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS2536627242 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536627255 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536627382 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536628112 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536628266 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536628297 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2536628519 FLNC Health Risk Likely pathogenic —
RS2536628603 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536629124 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536630337 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536630380 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536630484 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536631447 FLNC Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2536631625 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536631644 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536632037 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2536633680 FLNC Health Risk Likely pathogenic —
RS2536634026 FLNC Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2536634035 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536634089 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536634781 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536634922 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536635253 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS2536635261 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536635426 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536635707 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536635788 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536635905 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536636926 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536637199 EMC1 Health Risk Likely pathogenic Cerebellar atrophy, visual impairment
RS2536637317 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS2536637338 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536637714 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS2536638595 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536640850 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536640869 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536640884 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536641018 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2536641165 FLNC Health Risk Pathogenic Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS2536641173 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS2536641185 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
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