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
RS367674769 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS367675784 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS367676584 APC Health Risk Conflicting classifications of pathogenicity Colorectal adenoma, Hereditary cancer-predisposing syndrome
RS367676646 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS367677199 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
RS367677280 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS367677784 CNGB1 Health Risk Pathogenic —
RS367678053 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367678289 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS367678592 PKHD1 Health Risk Likely pathogenic Inborn genetic diseases, Autosomal recessive polycystic kidney disease
RS367678786 CNGB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS367679074 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS367679924 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS367680077 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
RS367680303 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS367680488 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related disorder
RS367680713 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS367680864 POLD1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Colorectal cancer
RS367681878 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS367681929 SCNN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudohypoaldosteronism
RS367682582 LYZ Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS367682612 GPSM2 Health Risk Pathogenic —
RS367683258 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS367684252 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS367684899 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS367685080 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5
RS367685759 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, See cases
RS367687624 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS367688416 PJVK Health Risk Pathogenic Deafness, Hearing loss
RS367688658 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS367688879 RNF43 Health Risk Conflicting classifications of pathogenicity Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS367688971 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS367689703 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS367689714 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS367690658 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS367692056 DSTYK Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract 1, Uterine corpus endometrial carcinoma
RS367692811 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS367693130 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS367693258 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, See cases
RS367693933 TTLL5 Health Risk Pathogenic —
RS367693972 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS367694129 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Inborn genetic diseases
RS367696431 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS367696862 HIVEP2 Health Risk Conflicting classifications of pathogenicity HIVEP2-related disorder, Inborn genetic diseases
RS367698156 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS367698803 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS367699137 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS367699419 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS367699815 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS367700246 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS367700285 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS367700437 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS367700816 C1R Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 1
RS367702294 DTNBP1 Health Risk Pathogenic/Likely pathogenic DTNBP1-related disorder, DTNBP1-related disorder
RS367702668 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS367702968 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS367703031 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS367703716 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS367706373 COL11A2 Health Risk Likely pathogenic COL11A2-related disorder, See cases
RS367706591 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS367707054 PLG Health Risk Pathogenic —
RS367707092 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS367707903 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS367709130 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS367709427 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS367710569 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS367712624 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS367715805 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS367716653 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS367718640 IFNAR1 Health Risk Pathogenic —
RS367718811 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS367718984 LOXL3 Health Risk Conflicting classifications of pathogenicity Myopia 28, autosomal recessive
RS367719489 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, familial
RS367720439 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS367721351 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS367721665 SDHA Health Risk Conflicting classifications of pathogenicity Skeletal myopathy, Mitochondrial complex II deficiency
RS367721824 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS367722051 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS367723039 TYMP Health Risk Pathogenic —
RS367724066 ACAN Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, aggrecan type
RS367725839 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS367726185 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS367726589 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder
RS367727229 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS367727920 PIGB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367727948 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS367727963 EVPL Health Risk Conflicting classifications of pathogenicity —
RS367728041 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS367728446 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS367729718 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS367730807 MIPEP Health Risk Conflicting classifications of pathogenicity Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Inborn genetic diseases
RS367731146 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS367732133 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367732360 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, LEOPARD syndrome 2
RS367733308 PSMB9 Health Risk Conflicting classifications of pathogenicity —
RS367734104 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS367734747 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS367735348 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS367735608 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367737262 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
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