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
RS794727464 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727466 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS794727467 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727468 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727470 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS794727472 COL2A1 Health Risk Pathogenic/Likely pathogenic COL2A1-related skeletal dysplasia, COL2A1-related skeletal dysplasia
RS794727473 IFT140 Health Risk Pathogenic —
RS794727475 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS794727477 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS794727481 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS794727487 SCN1B Health Risk Pathogenic/Likely pathogenic Brugada syndrome 5, Cardiovascular phenotype
RS794727488 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS794727491 NDE1 Health Risk Conflicting classifications of pathogenicity —
RS794727497 KMT2D Health Risk Pathogenic —
RS794727499 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727500 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS794727501 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS794727505 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Thrombocytopenia
RS794727507 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS794727509 SLC16A2 Health Risk Conflicting classifications of pathogenicity Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS794727511 SLC45A2 Health Risk Pathogenic —
RS794727516 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS794727519 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS794727521 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS794727523 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS794727530 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS794727531 ABCA4 Health Risk Pathogenic —
RS794727532 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
RS794727533 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, COL2A1-related disorder
RS794727534 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS794727535 CREBBP Health Risk Likely pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome 1
RS794727539 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727540 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727542 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727543 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727544 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727546 COL2A1 Health Risk Pathogenic —
RS794727547 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS794727548 KMT2D Health Risk Pathogenic —
RS794727549 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS794727550 DMD Health Risk Pathogenic —
RS794727551 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS794727554 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD7-related disorder
RS794727556 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS794727558 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS794727560 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS794727562 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS794727564 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS794727566 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS794727567 DMD Health Risk Pathogenic —
RS794727569 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS794727570 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS794727572 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS794727573 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS794727575 DMD Health Risk Pathogenic —
RS794727576 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome 1
RS794727577 SYNE1 Health Risk Pathogenic/Likely pathogenic See cases, Autosomal recessive ataxia
RS794727579 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS794727580 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727582 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727584 ADGRV1 Health Risk Pathogenic —
RS794727586 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS794727587 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Timothy syndrome
RS794727590 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
RS794727594 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS794727595 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS794727596 COL2A1 Health Risk Likely pathogenic —
RS794727601 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794727602 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS794727604 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS794727607 COL2A1 Health Risk Pathogenic —
RS794727610 KMT2D Health Risk Pathogenic —
RS794727611 KMT2D Health Risk Pathogenic —
RS794727612 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS794727615 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS794727616 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, neonatal form
RS794727618 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS794727619 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS794727620 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS794727621 PDHA1 Health Risk Conflicting classifications of pathogenicity —
RS794727623 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS794727624 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS794727625 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS794727629 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS794727631 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS794727634 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS794727635 DBT Health Risk Pathogenic —
RS794727636 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS794727637 HCN4 Health Risk Pathogenic Brugada syndrome 8, Cardiovascular phenotype
RS794727640 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS794727642 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS794727643 ATP6V0A2 Health Risk Pathogenic —
RS794727644 CUL7 Health Risk Pathogenic —
RS794727645 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS794727649 CDH23 Health Risk Pathogenic —
RS794727651 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS794727656 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS794727657 ARX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS794727658 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS794727661 DMD Health Risk Pathogenic Cardiomyopathy, Becker muscular dystrophy
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