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
RS1351590882 CUX2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 67
RS1351604858 NSUN2 Health Risk Likely pathogenic —
RS1351633854 ARID1B Health Risk Pathogenic —
RS1351636899 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1351645436 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1351649810 ASNS Health Risk Pathogenic —
RS1351655525 FYN Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1351661862 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1351664704 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS1351673148 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1351675410 F9 Health Risk Pathogenic —
RS1351684695 MYH3 Health Risk Pathogenic —
RS1351692845 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS1351698030 LARP7 Health Risk Pathogenic —
RS1351701416 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1351702441 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1351703532 CIB1 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to
RS1351742344 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1351747266 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1351749039 PI4KA Health Risk Likely pathogenic Polymicrogyria, perisylvian
RS1351753257 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Hereditary cancer-predisposing syndrome
RS1351772557 TEX15 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS1351781261 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1351809843 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1351862780 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1351871440 GRM6 Health Risk Pathogenic —
RS1351875080 TRMU Health Risk Likely pathogenic —
RS1351891195 CFH Health Risk Conflicting classifications of pathogenicity —
RS1351910038 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1351915127 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1351918391 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1351926905 USH2A Health Risk Pathogenic —
RS1351956022 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS1351971341 AAAS Health Risk Likely pathogenic —
RS1351976589 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1351986946 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1351993448 NLRP3 Health Risk Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
RS1352006092 TTN Health Risk Conflicting classifications of pathogenicity —
RS1352006130 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1352007983 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 39
RS1352009139 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1352009961 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS1352010373 TMEM94 Health Risk Pathogenic TMEM94-related disorder, Intellectual developmental disorder with cardiac defects and dysmorphic facies
RS1352019198 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1352024223 SCN8A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, SCN8A-related disorder
RS1352066127 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1352070054 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1352100383 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1352107832 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS1352133982 GALNT3 Health Risk Pathogenic —
RS1352135631 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1352149832 POMGNT1 Health Risk Conflicting classifications of pathogenicity —
RS1352161022 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1352162269 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1352171735 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1352191146 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1352193481 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1352205875 SLC45A2 Health Risk Likely pathogenic —
RS1352220583 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1352235060 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1352237419 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1352258641 TET2 Health Risk Pathogenic Angioimmunoblastic T-cell lymphoma, Angioimmunoblastic T-cell lymphoma
RS1352259738 DNMT3A Health Risk Pathogenic Intellectual disability, Tatton-Brown-Rahman overgrowth syndrome
RS1352275281 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1352310924 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS1352316880 USH2A Health Risk Pathogenic —
RS1352349454 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1352354716 NPHS1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1352380841 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1352385210 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1352390503 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS1352402588 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Ovarian cancer
RS1352407748 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Inborn genetic diseases
RS1352409938 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1352416909 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1352458826 CNGB1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1352478541 FBN1 Health Risk Pathogenic/Likely pathogenic FBN1-related disorder, Marfan syndrome
RS1352483031 PLA2G6 Health Risk Pathogenic PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS1352485089 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1352510294 FLNB Health Risk Pathogenic —
RS1352520437 MCM3AP Health Risk Pathogenic —
RS1352532055 LAMB1 Health Risk Likely pathogenic —
RS1352544800 CELA2A Health Risk Pathogenic Coronary artery disorder, Diabetes
RS1352552140 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1352584474 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS1352586389 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1352606118 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1352624446 TET2 Health Risk Pathogenic —
RS1352631535 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS1352639242 ANKRD11 Health Risk Pathogenic —
RS1352644449 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS1352655452 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS1352665263 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1352698710 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1352726114 FERRY3 Health Risk Pathogenic —
RS1352740721 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1352744778 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS1352756438 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1352765609 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1352786910 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
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