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
RS201458257 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS201458413 MATN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201458895 ALDH1B1 Health Risk Likely pathogenic —
RS201458896 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS201459354 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201459857 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS201460514 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS201460674 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS201460699 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 1
RS201460864 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS201460899 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS201461161 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS201461413 ELMOD3 Health Risk Conflicting classifications of pathogenicity —
RS201461684 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS201461833 TNK2 Health Risk Conflicting classifications of pathogenicity —
RS201461870 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS201461936 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Leigh syndrome
RS201461940 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS201462216 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS201462310 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201462794 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201463106 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 17
RS201463390 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS201463445 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS201463541 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS201463598 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS201463616 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS201463708 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201464545 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS201464610 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, UV-sensitive syndrome 2
RS201465097 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS201465430 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS201465595 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS201465672 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS201465737 ASXL3 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS201465765 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lymphatic malformation 7
RS201466089 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, TP63-Related Spectrum Disorders
RS201466122 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS201466173 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS201466202 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Inborn genetic diseases
RS201466297 CCDC120 Health Risk Conflicting classifications of pathogenicity —
RS201466326 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201466502 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS201466849 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS201466857 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Rabson-Mendenhall syndrome
RS201467036 ZAN Health Risk Conflicting classifications of pathogenicity —
RS201467037 SHROOM4 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Stocco dos Santos type
RS201467049 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 28, Inborn genetic diseases
RS201467089 EOLA2 Health Risk Conflicting classifications of pathogenicity —
RS201467281 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS201467485 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS201467603 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201468881 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS201469044 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS201469471 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS201469505 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201469600 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS201470035 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS201471142 OSTM1 Health Risk Likely pathogenic —
RS201471505 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201471551 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS201471607 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS201471898 IFNGR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 27A, Disseminated atypical mycobacterial infection
RS201471937 AARS2 Health Risk Conflicting classifications of pathogenicity —
RS201472075 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201472187 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201472224 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS201472270 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS201472372 MYBPC1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS201472530 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201473056 TRO Health Risk Conflicting classifications of pathogenicity —
RS201473097 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS201473194 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201473375 RIMS1 Health Risk Conflicting classifications of pathogenicity RIMS1-related disorder, RIMS1-related disorder
RS201473584 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201473797 RTTN Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to RTTN deficiency, Inborn genetic diseases
RS201474295 SETBP1 Health Risk Conflicting classifications of pathogenicity SETBP1-related disorder, SETBP1-related disorder
RS201474353 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS201474620 DNAH1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS201474883 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201474903 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS201475055 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS201475103 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS201475256 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201475621 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS201475647 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS201476017 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Inborn genetic diseases
RS201476147 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS201476356 NOS1 Health Risk Conflicting classifications of pathogenicity —
RS201476613 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS201476674 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201476980 MYOZ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS201477179 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS201477273 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS201477740 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS201477760 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
RS201477918 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201478045 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases
RS201478136 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201478192 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
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