SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS983555044 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS983576284 HOXA13 Health Risk Conflicting classifications of pathogenicity Hand-foot-genital syndrome, Guttmacher syndrome
RS983593929 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS983603381 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS983649759 ACE Health Risk Conflicting classifications of pathogenicity ACE-related disorder, Renal tubular dysgenesis of genetic origin
RS983691310 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS983693027 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS983722470 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS983741604 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS983763783 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome
RS983822008 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS983867817 GLE1 Health Risk Likely pathogenic —
RS983871391 GSS Health Risk Pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS983879715 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS983884500 ACVR1 Health Risk Conflicting classifications of pathogenicity —
RS983885088 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS983926349 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS983938730 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS983973496 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, SPG11-related disorder
RS983986337 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS984041251 FECH Health Risk Pathogenic/Likely pathogenic Protoporphyria, erythropoietic
RS984076701 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS984089547 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS984098699 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS984142085 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS984158225 SCARF2 Health Risk Conflicting classifications of pathogenicity Van den Ende-Gupta syndrome, Inborn genetic diseases
RS984164636 ABCC8 Health Risk Likely pathogenic —
RS984170802 CNNM2 Health Risk Conflicting classifications of pathogenicity —
RS984178014 C2CD3 Health Risk Pathogenic —
RS984225803 SLC45A2 Health Risk Pathogenic —
RS984275273 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS984281283 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS984285795 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS984306144 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS984314526 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS984314815 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS984341375 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS984353312 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS984394322 TGM1 Health Risk Pathogenic —
RS984509796 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS984544092 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS984545941 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS984565210 DNM1L Health Risk Conflicting classifications of pathogenicity Encephalopathy, lethal
RS984572250 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 4
RS984638888 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS984649575 CLIP1 Health Risk Pathogenic Short stature, Short stature
RS984651812 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS984660543 LAMA3 Health Risk Pathogenic —
RS984713605 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS984769025 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS984784417 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS984795084 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS984812540 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS984823914 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9848343 BAP1 Health Risk Likely pathogenic Clear cell carcinoma of kidney, BAP1-related tumor predisposition syndrome
RS984851087 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS984874083 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS984879135 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS9849237 CNTN4 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS984927444 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS984951289 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS984958735 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group G, Inborn genetic diseases
RS984967571 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS984974466 IBA57 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS984997081 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS985015612 PITX2 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities
RS985019447 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS985033810 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS985034372 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS985047210 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS985064686 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Mohr syndrome
RS985090030 SLC2A2 Health Risk Likely pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS985107396 LAMB3 Health Risk Pathogenic —
RS985114779 ZC3H12B Health Risk Conflicting classifications of pathogenicity —
RS985118235 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Joubert syndrome 23
RS985148465 SCO2 Health Risk Conflicting classifications of pathogenicity Myopia 6, Cardioencephalomyopathy
RS985156509 CYP1B1 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS985229219 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS985232390 SYT14 Health Risk Conflicting classifications of pathogenicity —
RS985242912 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9852894 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 1, Inborn genetic diseases
RS985340296 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS985347096 WLS Health Risk Pathogenic/Likely pathogenic WLS syndrome, Zaki syndrome
RS985347750 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS985356192 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS985358609 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS985371816 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS985379792 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS985435686 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS985504177 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer
RS985515930 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS985541014 TERF2IP Health Risk Likely pathogenic —
RS985551666 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS985569633 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS985611212 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS985650778 DES Health Risk Pathogenic —
RS985673517 VARS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS985812567 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS985818920 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS985845102 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
« Prev 1 ... 4000 4001 4002 4003 4004 4005 4006 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →