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
RS200456255 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200456346 STX1A Health Risk Likely pathogenic Neurodevelopmental abnormality, Intellectual disability
RS200456391 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS200456782 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200457116 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS200457227 OCA2 Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Tyrosinase-positive oculocutaneous albinism
RS200457382 HERC2 Health Risk Conflicting classifications of pathogenicity Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases
RS200457480 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS200457582 GUCA1B Health Risk Conflicting classifications of pathogenicity —
RS200457692 RTN4IP1 Health Risk Pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS200457834 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200457939 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Inborn genetic diseases
RS200458194 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS200458322 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS200458465 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS200458478 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS200458511 AP3D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200458986 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta with normal sclerae, dominant form
RS200459144 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS200459347 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200459402 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS200459424 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS200459876 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200459890 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200460217 RIN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RIN2 syndrome
RS200460456 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS200460601 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Jeune thoracic dystrophy
RS200460848 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS200461617 TBX5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Holt-Oram syndrome
RS200462132 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200462189 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS200462415 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS200462584 MPZL2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 111
RS200462734 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200462746 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200463050 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS200463088 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200463204 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS200463656 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, MLC1-related disorder
RS200464486 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200464704 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200464979 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200465216 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS200465419 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS200465544 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS200465740 SFXN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200465804 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, NDRG1-related disorder
RS200466188 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions
RS200466540 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200466720 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS200467041 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200467198 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200467869 DNA2 Health Risk Conflicting classifications of pathogenicity —
RS200467937 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS200468214 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200468312 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS200468360 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS200468391 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS200468440 CDC6 Health Risk Conflicting classifications of pathogenicity —
RS200468507 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200468701 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 3M syndrome 1
RS200468789 NR3C1 Health Risk Conflicting classifications of pathogenicity NR3C1-related disorder, Glucocorticoid resistance
RS200468798 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern
RS200468967 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200469074 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS200469353 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS200469923 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS200469979 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS200470034 SYP Health Risk Conflicting classifications of pathogenicity —
RS200470260 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease
RS200471266 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200471311 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS200471370 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200471470 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS200471699 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS200471726 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, Inborn genetic diseases
RS200472348 TECRL Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3
RS200472357 FXYD2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 2, Renal hypomagnesemia 2
RS200472467 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS200472519 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS200472684 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS200472799 NDUFAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS200472841 CCN6 Health Risk Conflicting classifications of pathogenicity CCN6-related disorder, CCN6-related disorder
RS200473206 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Long QT syndrome
RS200473405 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS200473560 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS200473652 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS200473895 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS200473919 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS200474297 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200474454 PAK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 30
RS200474460 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS200474760 STX16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200474997 DNAAF19;FAM187A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 17, Primary ciliary dyskinesia
RS200475413 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS200475524 NPIPA1 Health Risk Conflicting classifications of pathogenicity —
RS200475577 TPO Health Risk Likely pathogenic —
RS200475773 SOX10 Health Risk Conflicting classifications of pathogenicity SOX10-related disorder, SOX10-related disorder
RS200475862 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS200475872 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
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