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
RS760676697 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS760676955 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS76067797 CDHR3 Health Risk Conflicting classifications of pathogenicity Susceptibility to nonsyndromic otitis media, Susceptibility to nonsyndromic otitis media
RS760678574 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS760678661 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS760680632 MYLK Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Aortic aneurysm
RS760681272 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760681522 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS760682283 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS760682477 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS760682734 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS760683509 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS760683615 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS760684730 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS760684787 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760685441 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome
RS760685626 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS760686348 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS760686398 ADAM22 Health Risk Likely pathogenic ADAM22-related disorder, ADAM22-related disorder
RS760686756 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS760687443 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, PRPH2-related disorder
RS760688154 CFI Health Risk Pathogenic CFI-related disorder, CFI-related disorder
RS760688660 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS760688872 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS760689221 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS760689529 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760689800 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS760690217 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS760690355 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS760690745 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax
RS760691531 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS760691868 DOLK Health Risk Pathogenic DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
RS760691999 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS760692076 TRAF3IP1 Health Risk Pathogenic —
RS760693423 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760693838 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS760694987 IQCE Health Risk Pathogenic Polydactyly, postaxial
RS760695410 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS760695730 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS760695903 PLCB3 Health Risk Likely pathogenic Spondylometaphyseal dysplasia with corneal dystrophy, Spondylometaphyseal dysplasia with corneal dystrophy
RS760696164 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS760697124 COL17A1 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 4
RS760698812 TBXAS1 Health Risk Likely pathogenic Ghosal hematodiaphyseal dysplasia, Thromboxane synthetase deficiency
RS760699878 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS760700573 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS760700593 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS760702095 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS760702366 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS760702631 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS760703505 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS760704425 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS760704462 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS760705290 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscle eye brain disease, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS760705943 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, PANK2-related disorder
RS760706338 ADSS1 Health Risk Pathogenic —
RS760707447 COL18A1 Health Risk Pathogenic —
RS760707493 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS760709480 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS760710175 SDHA Health Risk Likely pathogenic —
RS760710691 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS760710708 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS760711308 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS760713161 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760713333 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS760713355 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS760713912 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS760714244 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS760714286 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS760714614 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS760714959 COL17A1 Health Risk Pathogenic Epithelial recurrent erosion dystrophy, Corneal dystrophy
RS760715215 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS760715690 SYNE1 Health Risk Pathogenic Arthrogryposis multiplex congenita 3, myogenic type
RS760715972 FREM2 Health Risk Pathogenic Fraser syndrome 2, FREM2-related disorder
RS760716065 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS760716300 MYO18B Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy
RS760716705 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS760717002 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760717114 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS760717128 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS760717246 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Developmental and epileptic encephalopathy
RS760718143 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760718747 TCF12 Health Risk Pathogenic Autism spectrum disorder, Hypogonadotropic hypogonadism 26 with or without anosmia
RS760719392 TOPORS Health Risk Conflicting classifications of pathogenicity —
RS760719554 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760721315 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS760721935 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS760722200 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760722955 TSEN2 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B
RS760723447 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS760724229 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760724368 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS760724710 TTN Health Risk Conflicting classifications of pathogenicity —
RS760726769 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760727529 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS760727534 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS760727599 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS760729838 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS760730197 NBAS Health Risk Pathogenic —
RS760730366 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS760731007 EDAR Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A
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