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
RS1331270134 TPRN Health Risk Conflicting classifications of pathogenicity —
RS1331273811 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS13312739 TYR Health Risk Likely pathogenic Oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 3
RS13312744 TYR Health Risk Conflicting classifications of pathogenicity —
RS13312800 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS13312801 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS13312858 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1331302673 AGTPBP1 Health Risk Pathogenic —
RS1331306772 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1331307146 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1331321777 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1331331095 DHCR7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS1331348912 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1331351515 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1331356644 DIAPH1 Health Risk Pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS1331358695 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1331366931 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1331370011 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1331371272 EPHB4 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype
RS1331402266 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1331416104 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Cardiovascular phenotype
RS1331420078 LRRC56 Health Risk Likely pathogenic —
RS1331420425 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1331457189 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1331463984 TRAF7 Health Risk Pathogenic/Likely pathogenic Cardiac, facial
RS1331470313 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1331472742 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS1331480187 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1331483649 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS1331484727 CCM2 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS1331502949 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, KRIT1-related disorder
RS1331518805 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1331533952 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1331554337 ITGA2B Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 16, Platelet-type bleeding disorder 16
RS1331558743 TRIT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 35, Combined oxidative phosphorylation deficiency 35
RS1331561092 SPR Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1331571804 ARMC9 Health Risk Pathogenic Joubert syndrome 30, Joubert syndrome 30
RS1331584604 SPG11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 11
RS1331587978 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1331589550 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1331635112 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1331645027 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis
RS1331682009 POLE Health Risk Pathogenic —
RS1331685476 SQSTM1 Health Risk Pathogenic Paget disease of bone 2, early-onset
RS1331686551 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1331690035 ELP2 Health Risk Likely pathogenic Profound intellectual disability, Profound intellectual disability
RS1331718470 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1331733789 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1331739604 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1331742633 PKLR Health Risk Pathogenic —
RS1331776405 ADCY3 Health Risk risk factor BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
RS1331834680 TULP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 15
RS1331883139 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1331889066 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS1331907655 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1331918224 COL9A1 Health Risk Pathogenic —
RS1331920811 TREX1 Health Risk Pathogenic/Likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1
RS1331921848 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1331926530 ZBTB20 Health Risk Pathogenic ZBTB20-related disorder, ZBTB20-related disorder
RS13319347 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1331982735 C1S Health Risk Pathogenic —
RS1332002484 COL4A1 Health Risk Likely pathogenic —
RS1332011298 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Primary dilated cardiomyopathy
RS1332043274 ASCC3 Health Risk Conflicting classifications of pathogenicity ASCC3-associated disorder, Intellectual developmental disorder
RS1332046778 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1332051427 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1332061304 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1332062788 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1332073619 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1332107669 COL7A1 Health Risk Pathogenic —
RS1332109041 HES7 Health Risk Likely pathogenic Spondylocostal dysostosis 4, autosomal recessive
RS1332137733 RNPC3 Health Risk Pathogenic Isolated growth hormone deficiency, type 5
RS13321615 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS1332186256 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1332257684 SLC35A3 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1332265538 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1332271433 DYNC1H1 Health Risk Conflicting classifications of pathogenicity DYNC1H1-related disorder, Charcot-Marie-Tooth disease axonal type 2O
RS1332287946 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1332296997 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1332314048 SLC39A8 Health Risk Likely pathogenic —
RS1332315502 KPTN Health Risk Pathogenic —
RS1332315688 HJV Health Risk Pathogenic —
RS1332319177 IGHMBP2 Health Risk Pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS1332327354 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1332335605 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1332337249 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1332371891 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS1332374941 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1332399736 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1332403498 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1332414511 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1332434505 OTOF Health Risk Likely pathogenic —
RS1332454949 CAPN3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS1332485667 PIEZO2 Health Risk Likely pathogenic —
RS1332489637 FRMD7 Health Risk Pathogenic/Likely pathogenic Nystagmus 1, congenital
RS1332539430 TBL1XR1 Health Risk Likely pathogenic —
RS1332546889 EIF2B4 Health Risk Likely pathogenic Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 1
RS1332576936 MYO15A Health Risk Likely pathogenic —
RS1332591068 APOE Health Risk Likely pathogenic Lipoprotein glomerulopathy, Lipoprotein glomerulopathy
RS1332591784 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
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