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
RS758657548 CRB1 Health Risk Likely pathogenic —
RS758657734 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS758658540 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS758659025 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS758659538 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS758660532 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS758661085 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS758661378 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758661538 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS758663546 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS758665829 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
RS758666194 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS758666784 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS758667255 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS758667297 GLI3 Health Risk Pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS758667776 OBSCN Health Risk Pathogenic —
RS758668477 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758668666 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS758669355 CHM Health Risk Pathogenic —
RS758669363 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C
RS758670140 PIK3C2A Health Risk Pathogenic —
RS758672583 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS758672665 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS758673417 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS758673714 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758673796 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS758674093 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS758674130 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS758675397 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS758677637 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS758677681 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Trigonocephaly 1
RS758677815 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS758678209 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS758678450 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS758678811 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS758680640 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758680661 DOCK6 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS758682063 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity —
RS758682585 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS758682648 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS758682688 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS758683062 ACVRL1 Health Risk Pathogenic Pulmonary hypertension, primary
RS758683818 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS758684873 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS758685128 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS758685448 C5 Health Risk Conflicting classifications of pathogenicity —
RS758685493 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS758685548 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS758685587 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS758685931 PLCB4 Health Risk Pathogenic —
RS758686992 THBD Health Risk Conflicting classifications of pathogenicity Thrombomodulin-related bleeding disorder, Thrombomodulin-related bleeding disorder
RS758687208 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS758687380 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS758687942 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS758688444 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS758689352 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS758690020 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS758690821 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758691069 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS758691852 CCDC82 Health Risk Conflicting classifications of pathogenicity Syndromic intellectual disability, CCDC82-Related Disorders
RS758692347 KIZ Health Risk Conflicting classifications of pathogenicity —
RS758692443 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS758692622 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS758693125 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS758694012 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Multiple myeloma
RS758696196 NPAT Health Risk Conflicting classifications of pathogenicity —
RS758696992 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS758699416 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS758699499 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Primary dilated cardiomyopathy
RS758699749 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758700138 SGCD Health Risk Pathogenic Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS758700198 EPS8L2 Health Risk Pathogenic Hearing loss, autosomal recessive 106
RS758701470 PEX3 Health Risk Conflicting classifications of pathogenicity —
RS758701595 NFASC Health Risk Likely pathogenic Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS758701848 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS758702382 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758702550 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS758703098 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS758703752 OR52I2 Health Risk Conflicting classifications of pathogenicity —
RS758705082 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS75870538 C6 Health Risk Pathogenic —
RS758705873 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS758705900 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS758706191 ITPA Health Risk Conflicting classifications of pathogenicity Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy
RS758706329 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758707541 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS758707781 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS758708229 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS75870842 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS758708495 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758709616 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS758709668 MC2R Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency 1, Inborn genetic diseases
RS758710579 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS758711507 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS758712442 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS758714256 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758714890 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS75871497 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, AFG2A-related disorder
RS758715635 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS758716088 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
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