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
RS1199660343 ATP5MC3 Health Risk Pathogenic Dystonia, early-onset
RS1199670660 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1199682889 CYP7B1 Health Risk Pathogenic Spastic paraplegia, CYP7B1-related disorder
RS1199687513 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1199690825 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1199705359 AGK Health Risk Pathogenic Cataract 38, Sengers syndrome
RS1199709583 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1199711768 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1199743522 NLRP5 Health Risk Pathogenic —
RS1199762302 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS1199770829 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1199770893 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1199776016 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1199790524 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS1199793577 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1199799880 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1199819249 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1199831823 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1199848222 TSC2 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 2
RS1199849243 ABCA4 Health Risk Pathogenic —
RS1199851750 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1199864354 ALDH1A3 Health Risk Likely pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS1199865481 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1199874172 EYA4 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS1199880148 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related disorder
RS1199914684 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1199919814 CRLF1 Health Risk Pathogenic Cold-induced sweating syndrome 1, Cold-induced sweating syndrome 1
RS1199925815 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS1199952317 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1199957431 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1199963642 FLG Health Risk Pathogenic —
RS1199988820 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1199992144 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1200008651 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1200012430 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Pituitary adenoma 5
RS1200012970 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1200029275 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1200031596 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS1200063571 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1200068518 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1200077945 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1200078508 NCF4 Health Risk Likely pathogenic Granulomatous disease, chronic
RS1200093419 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1200119538 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1200122093 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1200128322 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1200131247 RPGRIP1L Health Risk Pathogenic Joubert syndrome and related disorders, Meckel-Gruber syndrome
RS1200134985 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1200170208 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS1200172747 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1200178932 MADD Health Risk Likely pathogenic —
RS1200198184 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1200229021 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1200235313 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1200240274 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1200243711 DNMT3A Health Risk Pathogenic —
RS1200249069 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1200249357 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS1200261940 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1200262867 GABRA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1200296507 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1200299979 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1200332180 ASPH Health Risk Pathogenic/Likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS1200336864 TASP1 Health Risk Pathogenic Global developmental delay, Suleiman-El-Hattab syndrome
RS1200339761 CEL Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young
RS1200349975 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1200364118 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS1200370519 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1200377228 COL1A2 Health Risk Likely pathogenic —
RS1200394799 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Breast and/or ovarian cancer
RS1200447542 ALOXE3 Health Risk Pathogenic —
RS1200451014 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1200455844 WDR81 Health Risk Likely pathogenic —
RS1200458339 TRPV6 Health Risk Pathogenic Hyperparathyroidism, transient neonatal
RS1200459145 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1200480325 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1200514497 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1200521614 OPTN Health Risk Pathogenic —
RS1200526412 TYMP Health Risk Pathogenic/Likely pathogenic TYMP-related disorder, TYMP-related disorder
RS1200552239 ERCC3 Health Risk Pathogenic —
RS1200570964 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1200574734 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS1200591418 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1200593226 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1200609783 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1200621914 CACNA1B Health Risk Conflicting classifications of pathogenicity CACNA1B-related disorder, CACNA1B-related disorder
RS1200651928 BCL11B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, dysmorphic facies
RS1200655258 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1200659345 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1200661394 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1200665112 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1200683561 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness, Congenital stationary night blindness
RS1200686449 CNGB3 Health Risk Conflicting classifications of pathogenicity —
RS120074111 APOC2 Health Risk Pathogenic APOLIPOPROTEIN C-II (PADOVA), Familial apolipoprotein C-II deficiency
RS120074112 APOC2 Health Risk Likely pathogenic APOLIPOPROTEIN C-II (PARIS), Familial apolipoprotein C-II deficiency
RS120074114 APOC2 Health Risk Conflicting classifications of pathogenicity Apolipoprotein c-ii variant, Familial apolipoprotein C-II deficiency
RS120074115 APOC2 Health Risk Pathogenic Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (WAKAYAMA)
RS120074116 APOC2 Health Risk Pathogenic APOLIPOPROTEIN C-II (AUCKLAND), Familial apolipoprotein C-II deficiency
RS120074117 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS120074118 SMPD1;APBB1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
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