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
RS763770476 ELAC2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 17, Inborn genetic diseases
RS763770499 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 14
RS763770519 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS763771549 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763771560 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS763771673 BRAF Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS763772240 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS763772608 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloperipheral dysplasia, Achondrogenesis type II
RS763773056 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS763773124 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763774051 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS763776756 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS763777109 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS763777257 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS763777663 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763778803 LDLRAP1 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS763779667 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS763780083 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS763781326 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS763782107 ATP1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hemiplegic migraine
RS763782349 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS763782350 MYO15A Health Risk Pathogenic —
RS763782471 AVIL Health Risk Pathogenic Steroid-resistant nephrotic syndrome, Nephrotic syndrome
RS763783201 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS763783506 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS763785203 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763785541 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS763785730 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS763785885 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS763786323 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS76378652 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS763788653 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS763788808 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS763789288 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS763789574 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, WDPCP-related disorder
RS763790530 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS76379269 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS763792787 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS763794084 DNM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS763794263 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS763794604 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS763795429 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS763795863 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS763796886 SAR1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763797356 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS763797788 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS763798144 AMHR2 Health Risk Pathogenic Persistent mullerian duct syndrome, type II
RS763798306 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS763799125 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS763799286 TTC21B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephronophthisis
RS763800107 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS763800571 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS763801533 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS763801603 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS763801620 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Coffin-Siris syndrome 5
RS763802122 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763802909 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal
RS763804037 CDKN2A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS763804374 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS763804965 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS763807196 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS763807389 SLC9A3 Health Risk Pathogenic —
RS763808074 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS763809932 TTN Health Risk Likely pathogenic Third degree atrioventricular block, Third degree atrioventricular block
RS763811046 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS763811636 LY9 Health Risk association —
RS763813233 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS763815221 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Trigonocephaly 1
RS763815231 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS763815427 STX4 Health Risk Pathogenic/Likely pathogenic Sensorineural hearing loss disorder, Hearing loss
RS763815640 KIAA0586 Health Risk Likely pathogenic Clear cell carcinoma of kidney, Joubert syndrome 23
RS763816214 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS763816801 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS763816993 SPTB Health Risk Pathogenic —
RS763817505 HSPA9 Health Risk Pathogenic Autosomal dominant sideroblastic anemia, Autosomal dominant sideroblastic anemia
RS763818059 TBX19 Health Risk Pathogenic/Likely pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS763818494 SYNE1 Health Risk Likely pathogenic —
RS763818712 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763818901 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS763819025 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS763819379 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Oculocutaneous albinism
RS763820204 AAAS Health Risk Pathogenic —
RS763820312 CDH23 Health Risk Pathogenic —
RS763821454 CFAP410 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS763822752 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Noonan syndrome 10
RS763822931 TTN Health Risk Likely pathogenic —
RS763823697 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome
RS763824247 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS763826577 WHRN Health Risk Pathogenic —
RS763826959 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS763827023 SETD5 Health Risk Pathogenic —
RS763827222 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS763827720 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Cardiovascular phenotype
RS763829194 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS763830358 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS763831329 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Monogenic hearing loss
RS763832290 UBAP2L Health Risk Conflicting classifications of pathogenicity Global developmental delay, Neurodevelopmental disorder with impaired language
RS763833161 TTN Health Risk Conflicting classifications of pathogenicity —
RS763835246 CBS Health Risk Likely pathogenic Classic homocystinuria, Homocystinuria
RS763835588 SLC12A6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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