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
RS730882262 LMNA Health Risk Likely pathogenic Right ventricular cardiomyopathy, Hutchinson-Gilford progeria syndrome
RS73090721 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS73095427 IBA57 Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS73102625 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS73113975 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS73148633 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS73155056 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS73165082 TNRC6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS73167107 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS73167274 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder
RS73169186 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS73174429 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SHANK3-related disorder
RS73184339 ALG11;UTP14C Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS73192874 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Bardet-Biedl syndrome 14
RS73196003 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS73198165 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS73215912 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS73221409 DNAH10 Health Risk Conflicting classifications of pathogenicity DNAH10-related disorder, DNAH10-related disorder
RS73226383 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS73262683 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS73265454 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS73273219 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS73276691 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS73277593 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS73302197 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS73309461 SIX1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 23, Branchiootic syndrome 3
RS73312829 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS73323465 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS73342245 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS73343752 PSPH Health Risk Conflicting classifications of pathogenicity Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
RS73344082 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS73360282 TMTC2 Health Risk Conflicting classifications of pathogenicity —
RS73375345 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS73407163 DNHD1 Health Risk Conflicting classifications of pathogenicity DNHD1-related disorder, DNHD1-related disorder
RS73415876 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS73423036 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS73423037 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS73464271 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS73464952 VWA8 Health Risk Likely pathogenic Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate
RS73475744 NDP Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, History of neurodevelopmental disorder
RS73505420 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS73517551 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS735239 CD209 Health Risk risk factor Mycobacterium tuberculosis, susceptibility to
RS73532636 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS73541508 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS73549518 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS73549580 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Inborn genetic diseases
RS7355450 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS73569592 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS73580047 RNF217 Health Risk risk factor Multiple sclerosis, susceptibility to
RS73589395 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS73636611 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS73637412 GPR101 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma, growth hormone-secreting
RS73663163 BLK Health Risk Conflicting classifications of pathogenicity Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11
RS737054 FKBP5 Health Risk Likely risk allele Susceptibility to severe depressive disorder, Susceptibility to severe depressive disorder
RS73714410 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS73715573 CFTR Health Risk Pathogenic/Likely pathogenic; other Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS73717525 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS737267 SLC2A9 Health Risk association Uric acid concentration, serum
RS7374804 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS73749732 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, PGM3-related disorder
RS73754255 NDUFS4 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS73764462 TRAF3IP2 Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS73779334 SUMO4 Health Risk Conflicting classifications of pathogenicity —
RS73783802 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS73790880 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS73807328 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS73810366 PHOX2B Health Risk Pathogenic Haddad syndrome, Congenital central hypoventilation
RS73830668 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS738409 PNPLA3 Health Risk Conflicting classifications of pathogenicity; risk factor NAFLD1, Hepatic steatosis
RS73846070 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS73885319 APOL1 Health Risk Conflicting classifications of pathogenicity; risk factor Hyalinosis, Segmental Glomerular
RS73920281 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS73920284 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS73922346 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS73923958 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS73925118 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS73926269 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS73927405 NDUFAF7 Health Risk Conflicting classifications of pathogenicity —
RS73928330 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS73934370 LIM2 Health Risk Conflicting classifications of pathogenicity Cataract 19 multiple types, Cataract 19 multiple types
RS73938527 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS73945001 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS73946020 PIEZO2 Health Risk Conflicting classifications of pathogenicity autosomal recessive PIEZO2 associated disease, Arthrogryposis
RS739689 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia
RS73973137 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS73973139 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS73980009 B9D1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 27, B9D1-related disorder
RS73982299 ACACA Health Risk Conflicting classifications of pathogenicity —
RS74006838 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS74012174 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS74015039 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS74022458 MYO9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS74029958 RLBP1 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Newfoundland cone-rod dystrophy
RS74032867 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS74047012 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS74056058 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS74067193 RECQL Health Risk Conflicting classifications of pathogenicity RECQL-related disorder, RECQL-related disorder
RS74070022 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS74075638 C8A Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
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