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
RS751139032 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS751139506 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS751140324 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751141 EPHX2 Health Risk risk factor Hypercholesterolemia, familial
RS751142345 WDR4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly
RS751142446 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS751142825 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS751143580 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS751144068 IL2RB Health Risk Conflicting classifications of pathogenicity —
RS751145286 KMT5B Health Risk Pathogenic —
RS751145746 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751145927 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Dystrophin deficiency
RS751146386 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS751146607 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS751147313 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS751147419 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751147622 ENPP1 Health Risk Likely pathogenic Arterial calcification, generalized
RS751147673 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS751147980 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS751148574 PEX5 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger)
RS751148714 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS751148760 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS751149105 CERKL Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa
RS751149568 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Inborn genetic diseases
RS751149776 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS751150295 CLCN7 Health Risk Pathogenic —
RS751150566 IFT81 Health Risk Likely pathogenic —
RS75115087 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS751151452 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751153777 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS751153838 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751154230 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Myhre syndrome
RS751155680 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751157497 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS751157908 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, Cardiovascular phenotype
RS751158831 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS751159722 MMADHC Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS751159969 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751160202 MC4R Health Risk Pathogenic Obesity, autosomal dominant
RS751161649 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS751161742 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS751162519 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751162614 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS75116272 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS751163127 FAT1 Health Risk Likely pathogenic FAT1-related disorder, FAT1-related disorder
RS751163688 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS751163782 RAB28 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 18, Cone-rod dystrophy 18
RS751165188 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS751165635 AHDC1 Health Risk Pathogenic —
RS75116612 ADCY10 Health Risk Conflicting classifications of pathogenicity ADCY10-related disorder, ADCY10-related disorder
RS751167632 FRAS1 Health Risk Pathogenic FRAS1-related disorder, FRAS1-related disorder
RS751168951 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS751169467 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS751169823 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS751169871 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS751170471 PLK4 Health Risk Conflicting classifications of pathogenicity —
RS751170564 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS751170778 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS751172150 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS751172449 C1QB Health Risk Likely pathogenic C1Q deficiency 2, C1Q deficiency 2
RS751172816 PCDH12 Health Risk Conflicting classifications of pathogenicity Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS751173584 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751173836 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS751175089 PYGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease
RS751175344 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS751176079 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS751176093 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS751176116 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS751176402 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS751177222 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Perry syndrome
RS751177541 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS751178858 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related disorder, LZTR1-related disorder
RS751179784 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS751180603 ARSG Health Risk Likely pathogenic —
RS751181507 ALDH18A1 Health Risk Pathogenic/Likely pathogenic ALDH18A1-related disorder, Autosomal dominant spastic paraplegia type 9
RS751181600 WWOX Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 12, Autosomal recessive spinocerebellar ataxia 12
RS751182532 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS751182540 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, PRDM5-related disorder
RS751182657 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS751183646 IFT43 Health Risk Pathogenic —
RS751184319 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS751184580 FRMD5 Health Risk Pathogenic Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia
RS751185256 COQ2 Health Risk risk factor Multiple system atrophy, Coenzyme Q10 deficiency
RS751185435 WDFY3 Health Risk Conflicting classifications of pathogenicity Esophageal atresia/tracheoesophageal fistula, Inborn genetic diseases
RS751185980 RETREG1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS751186776 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS751186949 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS751187394 AARS2 Health Risk Likely pathogenic —
RS751189785 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, CFTR-related disorder
RS751190049 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS751190453 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS751190601 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS751190779 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS751191119 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751191439 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751192029 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS751192681 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS751192841 ARID1B Health Risk Pathogenic See cases, See cases
RS751193355 RSPH3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS751195930 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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