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
RS886043626 USH1G Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS886043627 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS886043629 NIPBL Health Risk Pathogenic —
RS886043630 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS886043631 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS886043634 SHOX Health Risk Conflicting classifications of pathogenicity SHOX-related short stature, SHOX-related short stature
RS886043635 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043636 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS886043639 DDX3X Health Risk Likely pathogenic —
RS886043640 DMD Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Cardiomyopathy
RS886043641 COL5A1 Health Risk Pathogenic —
RS886043644 UNC80 Health Risk Pathogenic/Likely pathogenic —
RS886043645 SYNE1 Health Risk Pathogenic —
RS886043648 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS886043654 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS886043657 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS886043663 KLHL7 Health Risk Conflicting classifications of pathogenicity —
RS886043669 GP6 Health Risk Pathogenic —
RS886043676 DMD Health Risk Pathogenic Motor delay, Calf muscle hypertrophy
RS886043677 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS886043680 PHEX Health Risk Pathogenic —
RS886043681 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS886043685 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS886043686 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS886043692 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS886043694 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS886043699 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043700 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043703 ABCB11 Health Risk Pathogenic —
RS886043704 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS886043705 CAPN3 Health Risk Pathogenic —
RS886043706 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS886043708 HSD17B4 Health Risk Pathogenic —
RS886043709 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886043710 MATN3 Health Risk Conflicting classifications of pathogenicity —
RS886043711 BMP2 Health Risk Pathogenic/Likely pathogenic Short stature, facial dysmorphism
RS886043712 COL2A1 Health Risk Likely pathogenic —
RS886043713 TRPS1 Health Risk Conflicting classifications of pathogenicity —
RS886043715 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS886043716 CHM Health Risk Pathogenic —
RS886043718 TTN Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS886043725 ABCB4 Health Risk Pathogenic —
RS886043728 ARX Health Risk Pathogenic —
RS886043734 ABCB4 Health Risk Pathogenic —
RS886043737 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043741 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS886043742 CDKL5 Health Risk Pathogenic —
RS886043743 THRB Health Risk Pathogenic —
RS886043744 NPC1 Health Risk Likely pathogenic —
RS886043745 LMNA Health Risk Pathogenic —
RS886043749 COL1A1 Health Risk Likely pathogenic —
RS886043750 CHD7 Health Risk Pathogenic —
RS886043751 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS886043752 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886043753 RETREG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886043756 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS886043764 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043769 KCNJ13 Health Risk Conflicting classifications of pathogenicity —
RS886043772 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043773 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS886043774 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS886043776 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS886043780 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS886043784 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886043786 CPLANE1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS886043789 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS886043790 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS886043792 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS886043793 OTX2 Health Risk Pathogenic —
RS886043794 COL2A1 Health Risk Pathogenic Multiple epiphyseal dysplasia, Beighton type
RS886043796 COL1A2 Health Risk Likely pathogenic —
RS886043797 COL2A1 Health Risk Pathogenic —
RS886043802 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS886043805 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
RS886043807 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS886043809 COL18A1 Health Risk Pathogenic —
RS886043810 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886043812 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS886043813 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS886043817 DMD Health Risk Pathogenic —
RS886043822 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043826 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS886043831 SOX9 Health Risk Pathogenic —
RS886043833 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS886043839 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS886043840 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS886043841 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS886043844 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS886043848 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886043851 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS886043852 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
RS886043854 TTN Health Risk Likely pathogenic —
RS886043860 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS886043864 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS886043866 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS886043869 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886043870 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS886043871 NPC1 Health Risk Pathogenic —
RS886043872 CUL7 Health Risk Pathogenic —
RS886043875 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
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