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
RS751956177 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS751956557 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS751956751 MAGI2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 15, Nephrotic syndrome 15
RS751957350 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751957510 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS751957685 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 1
RS751959283 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS751959432 CLDN16 Health Risk Pathogenic/Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS751960113 CYP17A1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS751960243 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS751960466 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS751961615 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS751962801 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome
RS751963395 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751965920 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS751966925 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS751967199 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS751967797 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS751969035 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS751969803 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS751970061 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS751970792 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS751970827 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis 3
RS751972271 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS751972593 CDHR1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS751972865 BPGM Health Risk Pathogenic Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
RS751973078 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS751973268 PMS2 Health Risk Conflicting classifications of pathogenicity Mismatch repair cancer syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS751973364 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS751973449 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis
RS751973865 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS751975712 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS751975987 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS751977093 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS751977111 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS751977290 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS751977466 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS751977644 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS751978811 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS751979756 MAPKAPK5 Health Risk Pathogenic Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
RS751981817 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS751984707 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751984732 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS751985212 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS751985298 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS751986019 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS751986220 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS751986285 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS751986362 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS751986784 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS751986971 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS751987553 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Myosclerosis
RS751988233 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS751988410 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS751989395 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751989550 RTN4IP1 Health Risk Pathogenic —
RS751990617 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751994125 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751994566 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751994699 ALPL Health Risk Pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS751994722 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS751994990 LRP6 Health Risk Pathogenic —
RS751995154 ACADVL Health Risk Conflicting classifications of pathogenicity Myopathy, Rhabdomyolysis
RS751996698 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS751997497 PARS2 Health Risk Conflicting classifications of pathogenicity —
RS751998841 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS751999785 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS752000002 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases
RS752000268 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS752000778 SMPD1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Sphingomyelin/cholesterol lipidosis
RS752000790 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS752001360 FDXR Health Risk Pathogenic Auditory neuropathy-optic atrophy syndrome, Multiple mitochondrial dysfunctions syndrome 9b
RS752001894 SMARCC2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 8, SMARCC2-related disorder
RS752002618 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS752002666 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS752004128 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752004731 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS752005568 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS752005713 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS752006255 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS752006809 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS752007056 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS752007619 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS752009031 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS752009181 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752009313 PYROXD1 Health Risk Pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS752009611 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS752009614 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS752010116 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS752010216 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS752012358 LIMS2 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
RS752012401 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752012879 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS752013568 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder
RS752013986 ARR3 Health Risk Pathogenic —
RS752015037 LARS2 Health Risk Pathogenic —
RS752015120 DOCK6 Health Risk Pathogenic/Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS752015385 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS752016007 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752016886 CWC27 Health Risk Pathogenic —
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