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
RS147398633 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS147398904 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Retinal dystrophy
RS1473991269 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS147399432 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147399860 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Intellectual disability
RS1474000585 EPRS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1474000709 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS147401037 MCEE Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS1474013513 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS1474017319 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia type I
RS147402171 PLOD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PLOD2-related disorder
RS147402935 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS147403664 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome
RS147404195 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS147404292 SLC1A1 Health Risk Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria, Dicarboxylic aminoaciduria
RS147404477 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS147405294 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS1474053113 RPS29 Health Risk Likely pathogenic —
RS1474054365 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1474055596 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS147405732 COQ8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147405788 TRMT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1474058708 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Nephronophthisis
RS147406088 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS1474061940 COL4A1 Health Risk Conflicting classifications of pathogenicity Retinal arterial tortuosity, Brain small vessel disease 1 with or without ocular anomalies
RS1474063386 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS147406641 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Atrial septal defect 5
RS147407423 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS147407445 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS1474077825 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1474090446 FOXP2 Health Risk Pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS147409148 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS147409450 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Inborn genetic diseases
RS147409760 BEST1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vitreoretinochoroidopathy, Retinitis pigmentosa
RS1474100681 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1474105130 SLC2A10 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1474107442 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS147410912 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS147410975 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS147411159 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Gaucher disease
RS147411334 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1474115309 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS147412052 SARS2 Health Risk Conflicting classifications of pathogenicity —
RS147412202 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS147412276 CRB2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 9, Inborn genetic diseases
RS147412842 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-related disorder
RS1474151297 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS147415181 DONSON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1474152110 TFAP2B Health Risk Pathogenic —
RS147415451 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS147415641 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia 2
RS147415774 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS147415811 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, Adams-Oliver syndrome 1
RS147416429 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS147416469 WBP2 Health Risk Conflicting classifications of pathogenicity —
RS1474166605 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147416761 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS147416890 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1474181679 CDH3 Health Risk Pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy
RS1474187970 FGFR3 Health Risk Conflicting classifications of pathogenicity Hypochondroplasia, Hypochondroplasia
RS147418835 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS147418905 PTPN4 Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS147419225 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1474195407 LIFR Health Risk Pathogenic —
RS147419780 SZT2 Health Risk Conflicting classifications of pathogenicity SZT2-related disorder, SZT2-related disorder
RS1474201425 MCCC2 Health Risk Likely pathogenic —
RS147420365 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS147420731 CDHR1 Health Risk Conflicting classifications of pathogenicity CDHR1-related disorder, CDHR1-related disorder
RS147421006 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1474214658 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS147422190 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS147422843 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS147423442 KRT16 Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 1, KRT16-related disorder
RS147424205 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1474253061 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS147426329 LIPA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolman disease
RS147426388 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS147426418 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS147426809 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS147426852 GDNF Health Risk Conflicting classifications of pathogenicity —
RS147427088 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS147427207 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS147427999 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1474282888 SDHB Health Risk Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS1474282972 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS147428518 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, Matthew-Wood syndrome
RS1474290508 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS147429438 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1474297447 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS147429960 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS147430035 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, HPS5-related disorder
RS1474301500 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147430470 C5 Health Risk Conflicting classifications of pathogenicity Complement component 5 deficiency, Complement component 5 deficiency
RS147430700 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS147431446 SLC25A38 Health Risk Pathogenic/Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1474317878 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS147432138 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS147432650 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS147433234 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS147433918 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
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