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
RS1185268163 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1185268927 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS11852999 PRC1 Health Risk association Breast carcinoma, Breast carcinoma
RS1185308299 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1185311207 PEX7 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 9B, PEX7-related disorder
RS1185319004 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1185321132 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1185321977 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1185328501 KLK4 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS1185329868 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1185330478 SLC4A1 Health Risk Likely pathogenic Cryohydrocytosis, Cryohydrocytosis
RS1185338798 DPM2 Health Risk Pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS1185360439 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1185381711 LRPPRC Health Risk Pathogenic —
RS1185404768 GFAP Health Risk Conflicting classifications of pathogenicity Alexander disease, Alexander disease
RS1185406298 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1185406502 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1185428793 RLBP1 Health Risk Pathogenic —
RS1185429975 VDR Health Risk Pathogenic —
RS1185431356 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1185446006 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS1185448032 IARS2 Health Risk Pathogenic —
RS1185476843 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1185483085 DPAGT1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, DPAGT1-congenital disorder of glycosylation
RS1185489584 HPS5 Health Risk Likely pathogenic —
RS1185491348 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1185513978 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1185515418 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1185518625 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1185519347 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS1185537869 ANKLE2 Health Risk Likely pathogenic Microcephaly 16, primary
RS1185550236 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS1185555417 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1185562018 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1185592373 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1185617030 ADGRV1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Febrile seizures
RS1185619003 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1185622190 GCK Health Risk Uncertain significance/Uncertain risk allele Permanent neonatal diabetes mellitus, Hyperinsulinism due to glucokinase deficiency
RS1185643240 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1185644472 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1185654671 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1185658160 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1185664659 SLC26A4 Health Risk Pathogenic —
RS1185676416 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1185686653 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1185698194 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1185711564 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1185721664 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1185750493 VPS13A Health Risk Pathogenic —
RS1185777867 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1185813203 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
RS1185815773 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS1185842552 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1185847791 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Alport syndrome
RS1185859533 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1185878570 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1185896776 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS1185902827 DPH1 Health Risk Likely pathogenic Developmental delay with short stature, dysmorphic facial features
RS1185917556 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1185917760 COL11A1 Health Risk Pathogenic —
RS1185962534 STRADA Health Risk Likely pathogenic Polyhydramnios, megalencephaly
RS1185964193 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS1185982706 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1185989004 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1185991890 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1186008456 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Autosomal dominant cerebellar ataxia
RS1186009937 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS1186036467 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS1186050632 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1186074948 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS1186120881 COL4A3 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS1186149065 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS11861560 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, CLCN7-related disorder
RS1186161085 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1186161867 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1186170316 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1186218257 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1186230260 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1186246637 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1186249894 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1186283623 MLKL Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1186290245 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1186291778 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1186314496 GOSR2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1186317535 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1186386364 CPT1C Health Risk Likely pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS1186387029 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1186399866 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1186430097 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1186443300 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1186483962 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1186488065 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1186496501 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1186502689 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS1186509068 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1186518181 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1186536794 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS1186557939 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1186567070 BLTP1 Health Risk Likely pathogenic BLTP1-related disorder, BLTP1-related disorder
RS1186576451 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
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