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
RS1282410534 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1282424661 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1282433030 KCNV2 Health Risk Pathogenic/Likely pathogenic —
RS1282433424 GATA4 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 2, Atrioventricular septal defect 4
RS1282469317 FGB Health Risk Conflicting classifications of pathogenicity —
RS1282472315 ABCA4 Health Risk Pathogenic Cone-rod dystrophy, Stargardt disease
RS1282492342 NEK8 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2
RS1282493551 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1282495545 SNCA Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 1, Lewy body dementia
RS1282502867 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1282521429 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS1282558220 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1282576516 AFG3L2 Health Risk Conflicting classifications of pathogenicity —
RS1282596664 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Congenital anomaly of kidney and urinary tract
RS1282599125 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1282613813 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1282619643 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1282621867 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1282624852 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1282630153 WDR73 Health Risk Pathogenic/Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS1282634331 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Inborn genetic diseases
RS1282655744 PLA2G6 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy
RS1282659169 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1282663873 MYH7 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy
RS1282664179 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1282668884 MIR1225;PKD1;PKD1-AS1;TSC2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1282690126 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1282726649 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1282760239 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS1282788711 CRPPA Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1282789659 MYBPC3 Health Risk Likely pathogenic —
RS1282812003 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1282816133 IMPDH1 Health Risk Pathogenic —
RS1282821765 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group N
RS1282824691 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1282844765 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1282857832 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1282859149 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1282873235 SCYL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1282879239 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS1282907317 CACNA1S Health Risk Pathogenic Congenital myopathy 18, Congenital myopathy 18
RS1282916502 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1282958432 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1282963652 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1282985383 CACNA1A Health Risk Likely pathogenic —
RS1282986679 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS1283023888 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS1283045273 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1283050088 COL3A1 Health Risk Conflicting classifications of pathogenicity Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS1283051418 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1283058431 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS1283070426 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1283072905 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS1283083598 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS1283092935 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1283105162 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1283105269 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1283110287 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1283169932 GNPAT Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1283173275 ZMYM2 Health Risk Likely pathogenic —
RS1283173955 C2 Health Risk Conflicting classifications of pathogenicity —
RS1283174775 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1283177454 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1283198587 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1283205861 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1283208395 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1283213117 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1283214655 ERCC5 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 3
RS1283231785 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS1283231905 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1283277452 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS1283284704 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1283302989 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1283305854 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS1283306727 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1283307441 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1283307773 TULP1 Health Risk Likely pathogenic —
RS1283326178 TSPAN12 Health Risk Conflicting classifications of pathogenicity Retinal disorder, Retinal disorder
RS1283326533 PIGV Health Risk Conflicting classifications of pathogenicity —
RS1283350532 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1283361732 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Hyperornithinemia
RS1283365095 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1283368278 TBCE Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1283377907 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1283385686 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS1283387324 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1283389193 KATNIP Health Risk Pathogenic/Likely pathogenic See cases, Joubert syndrome 26
RS1283426045 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS1283433071 CCDC88C Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS1283433441 CTNNA1 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS1283433476 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS1283443715 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS1283454201 ELP2 Health Risk Likely pathogenic —
RS1283508592 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1283508618 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1283509388 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1283533086 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1283560494 NBEAL2 Health Risk Pathogenic —
RS1283565272 CFI Health Risk Pathogenic —
RS1283566399 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
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