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
RS61778075 YRDC Health Risk Conflicting classifications of pathogenicity Sarcoma, Hepatocellular carcinoma
RS61781316 LEPR Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to leptin receptor gene deficiency
RS61783968 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61809332 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS6181 GHR Health Risk Conflicting classifications of pathogenicity —
RS61811105 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS61816761 FLG Health Risk Pathogenic/Likely pathogenic Dermatitis, atopic
RS61818162 IGFN1 Health Risk Conflicting classifications of pathogenicity —
RS61825652 ATP2B4 Health Risk Conflicting classifications of pathogenicity ATP2B4-related disorder, ATP2B4-related disorder
RS61832076 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS61843232 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS61844226 HNRNPU Health Risk Likely pathogenic —
RS61871507 TWNK Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS61873899 HPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61886330 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS61889560 LRP5 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS61890368 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS1-related disorder
RS61893682 INCENP Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS61897383 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy
RS61900036 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS61910721 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS61926078 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS61935711 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS61935741 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS61941020 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Joubert syndrome 5
RS61952117 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS61957448 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS61966074 SLC10A2 Health Risk Conflicting classifications of pathogenicity Bile acid malabsorption, primary
RS61978561 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder
RS61978562 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS61978576 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS61978618 HEXD Health Risk Conflicting classifications of pathogenicity —
RS61978638 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS61978648 OTOG Health Risk Conflicting classifications of pathogenicity Meniere disease, OTOG-related disorder
RS61995753 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS61995897 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS61995907 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61995921 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS61995923 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS61995958 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS61996282 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS61996315 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS61996318 LHCGR Health Risk Conflicting classifications of pathogenicity LHCGR-related disorder, LHCGR-related disorder
RS61996323 STXBP5L Health Risk Conflicting classifications of pathogenicity —
RS61996331 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS61996335 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, RYR3-related disorder
RS61997186 RIMS2 Health Risk Conflicting classifications of pathogenicity —
RS62000407 CENPF Health Risk Conflicting classifications of pathogenicity CENPF-related disorder, CENPF-related disorder
RS62000447 TEX15 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS62000960 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL18A1-related disorder
RS62007358 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS62052075 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS62059341 CARMIL2 Health Risk Conflicting classifications of pathogenicity —
RS6207 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS62089120 RTTN Health Risk Conflicting classifications of pathogenicity RTTN-related disorder, RTTN-related disorder
RS62095193 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS62130681 CAD Health Risk Pathogenic Developmental and epileptic encephalopathy, 50
RS62145939 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS62179016 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS62184175 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS62191613 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS62193615 IDH1 Health Risk Likely pathogenic Enchondromatosis, Enchondromatosis
RS62208067 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS622288 MSTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases
RS62242804 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Sick sinus syndrome 1
RS62246206 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS62261469 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS62267114 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS62269092 CASR Health Risk Conflicting classifications of pathogenicity Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia 1
RS62286651 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS62295357 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS62296477 RNF212 Health Risk risk factor Down syndrome, Down syndrome
RS62313245 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS62321379 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS62340657 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder
RS62346982 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS62353845 NADK2 Health Risk Conflicting classifications of pathogenicity Progressive encephalopathy with leukodystrophy due to DECR deficiency, NADK2-related disorder
RS62364883 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS62421010 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS62481073 LEP Health Risk Conflicting classifications of pathogenicity Obesity due to congenital leptin deficiency, Early onset severe obesity
RS62481098 IMPDH1 Health Risk Conflicting classifications of pathogenicity —
RS62492438 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS62506949 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62506950 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62506951 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507260 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507261 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507262 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507265 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507269 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507270 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507271 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507272 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507279 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507282 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507283 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507286 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507288 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62507319 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62507321 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
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