SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886044420 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS886044421 TCAP Health Risk Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS886044422 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886044424 CDKL5 Health Risk Pathogenic —
RS886044425 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS886044427 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886044428 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044430 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044431 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044435 HSD3B7 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
RS886044436 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS886044437 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS886044438 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886044439 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS886044440 DMD Health Risk Pathogenic —
RS886044441 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS886044444 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS886044447 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS886044448 IGF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886044449 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS886044450 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
RS886044452 DAG1 Health Risk Likely pathogenic —
RS886044455 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS886044458 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044460 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044461 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044466 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044472 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886044475 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886044480 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886044483 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886044484 COL6A2 Health Risk Pathogenic —
RS886044490 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044493 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS886044495 DMD Health Risk Pathogenic —
RS886044496 FKRP Health Risk Likely pathogenic —
RS886044498 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS886044499 OPHN1 Health Risk Pathogenic —
RS886044500 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS886044501 DMD Health Risk Pathogenic —
RS886044502 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044503 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044505 TTN Health Risk Likely pathogenic —
RS886044506 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886044511 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044512 SGCA Health Risk Pathogenic —
RS886044514 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS886044516 SGCA Health Risk Pathogenic —
RS886044517 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044525 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS886044526 COL6A2 Health Risk Pathogenic/Likely pathogenic —
RS886044527 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS886044528 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS886044534 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS886044535 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS886044536 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Cardiomyopathy
RS886044537 DYSF Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS886044539 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS886044544 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS886044547 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886044551 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS886044553 AGPS Health Risk Conflicting classifications of pathogenicity —
RS886044555 COL2A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Achondrogenesis type II
RS886044558 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS886044563 WFS1 Health Risk Pathogenic/Likely pathogenic —
RS886044567 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886044568 TUBA1A Health Risk Conflicting classifications of pathogenicity TUBA1A-related disorder, TUBA1A-related disorder
RS886044570 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS886044572 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, ABCG5-related disorder
RS886044576 COL6A2 Health Risk Conflicting classifications of pathogenicity —
RS886044580 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS886044581 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS886044582 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044584 COL11A2 Health Risk Pathogenic/Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS886044588 SYNE1 Health Risk Likely pathogenic —
RS886044593 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044598 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886044603 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS886044604 JAG1 Health Risk Pathogenic —
RS886044606 TCTN1 Health Risk Likely pathogenic —
RS886044612 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS886044616 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS886044620 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS886044621 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS886044622 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886044624 DMD Health Risk Pathogenic/Likely pathogenic —
RS886044633 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS886044637 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886044640 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS886044643 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886044646 ATR Health Risk Conflicting classifications of pathogenicity —
RS886044647 OTOGL Health Risk Pathogenic —
RS886044648 CDHR1 Health Risk Likely pathogenic —
RS886044650 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS886044663 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044666 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS886044667 OTOA Health Risk Likely pathogenic —
RS886044668 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS886044669 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS886044670 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
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