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
RS1344212943 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1344213916 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1344231723 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1344235154 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1344249067 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS1344258746 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1344266804 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1344275862 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1344288054 PDE6C Health Risk Likely pathogenic —
RS1344296862 ABCA12 Health Risk Pathogenic —
RS1344296865 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS1344296942 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1344304906 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, SOS2-related disorder
RS1344332366 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1344337662 IGFALS Health Risk Likely pathogenic —
RS1344342135 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1344343597 SKIC2 Health Risk Pathogenic —
RS1344368175 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1344390541 USH2A Health Risk Pathogenic —
RS1344396759 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS1344409792 OTOF Health Risk Likely pathogenic —
RS1344419982 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1344422504 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1344432803 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1344439858 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1344477568 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1344484845 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1344488286 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1344509500 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS1344522422 CASZ1 Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1344527425 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Autosomal recessive spinocerebellar ataxia 7
RS1344533583 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors
RS1344548642 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS1344550427 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1344551908 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1344555845 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1344561983 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Familial hypercholesterolemia
RS1344567292 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1344567623 LORICRIN Health Risk Likely pathogenic Loricrin keratoderma, Loricrin keratoderma
RS1344574242 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1344601147 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1344601362 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS1344607767 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1344615174 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS1344658850 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS1344681005 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1344698119 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1344698815 CHD1 Health Risk Likely pathogenic Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS1344704197 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia
RS1344724754 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS13447324 MC4R Health Risk Pathogenic Obesity, Schizophrenia
RS13447325 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS13447326 MC4R Health Risk Conflicting classifications of pathogenicity —
RS13447329 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS13447331 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS13447332 MC4R Health Risk Pathogenic/Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS13447333 MC4R Health Risk Pathogenic/Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS13447338 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS13447339 MC4R Health Risk Pathogenic/Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, Obesity
RS1344745708 SLC25A12 Health Risk Pathogenic —
RS1344759224 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1344768030 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1344783415 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1344786039 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1344786638 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1344808304 SFRP4 Health Risk Likely pathogenic Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
RS1344820986 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1344826245 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1344839231 TYMP Health Risk Pathogenic —
RS1344854036 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1344892313 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1344899647 UMPS Health Risk Likely pathogenic Oroticaciduria, Oroticaciduria
RS1344931712 APPL1 Health Risk Likely pathogenic —
RS1344931713 MYO1E Health Risk Pathogenic —
RS1344972426 AP2M1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1344999827 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS1345014390 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1345024890 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1345028760 SLC25A1 Health Risk Pathogenic —
RS1345028835 MCPH1 Health Risk Pathogenic —
RS1345036090 GSR Health Risk Pathogenic Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
RS1345086570 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1345120527 DGUOK Health Risk Pathogenic —
RS1345121557 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1345146274 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1345148257 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS1345151578 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1345175795 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1345176461 IRF2BPL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1345208839 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1345217165 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS1345228128 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1345239508 CLCNKB Health Risk Pathogenic —
RS1345247825 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1345279795 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1345325140 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1345327745 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1345329176 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1345403701 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1345403982 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
« Prev 1 ... 394 395 396 397 398 399 400 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →