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
RS1766025064 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1766040137 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766043404 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1766047961 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766053215 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766061264 APC Health Risk Pathogenic/Likely pathogenic APC-related disorder, Familial adenomatous polyposis 1
RS1766101931 NSD1 Health Risk Likely pathogenic —
RS1766105693 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Inherited polyposis and early onset colorectal cancer - germline testing
RS1766130383 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766169568 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766174156 EYS Health Risk Pathogenic —
RS1766182274 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1766191833 EYS Health Risk Pathogenic —
RS1766202141 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766207854 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1766217655 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1766221897 EYS Health Risk Pathogenic —
RS1766265062 COL12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2
RS1766272355 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766298401 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766311095 LCA5 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1766311263 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766311895 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766312361 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS1766315103 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766318937 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766329158 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1766347750 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766353088 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1766367247 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766367970 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1766374212 EYS Health Risk Pathogenic —
RS1766374293 EYS Health Risk Pathogenic —
RS1766378599 EYS Health Risk Pathogenic —
RS1766382484 EYS Health Risk Pathogenic —
RS1766383947 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1766397905 EYS Health Risk Pathogenic —
RS1766404452 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1766404539 COL12A1 Health Risk Likely pathogenic Bethlem myopathy 2, Bethlem myopathy 2
RS1766408020 EYS Health Risk Pathogenic —
RS1766410692 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766413072 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766414666 EYS Health Risk Pathogenic —
RS1766416713 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766419027 ADGRV1 Health Risk Pathogenic —
RS1766419869 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1766427315 EYS Health Risk Pathogenic —
RS1766427552 EYS Health Risk Pathogenic —
RS1766437216 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1766462821 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766468940 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766495554 COL12A1 Health Risk Likely pathogenic —
RS1766523611 LCA5 Health Risk Pathogenic —
RS1766523945 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1766524422 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766528592 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1766535009 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1766542279 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1766552940 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS1766556883 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1766578455 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766588110 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766596437 MARVELD2 Health Risk Pathogenic Hearing loss, autosomal recessive
RS1766600757 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, APC-related disorder
RS1766601512 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766601813 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1766647259 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1766679390 EYS Health Risk Pathogenic —
RS1766679809 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766681441 EYS Health Risk Pathogenic —
RS1766682665 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1766687373 EYS Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1766727068 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Febrile seizures
RS1766745307 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766752417 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS1766773164 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766773391 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766794792 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1766797963 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1766898088 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1766993480 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1767008778 POLH Health Risk Likely pathogenic —
RS1767064064 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1767079240 POLH Health Risk Pathogenic —
RS1767095714 MMUT Health Risk Pathogenic —
RS1767096752 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1767108423 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS1767111402 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS1767133183 MMUT Health Risk Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1767152512 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767163932 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767193145 CYFIP2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 65
RS1767224356 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1767238331 MMUT Health Risk Likely pathogenic —
RS1767239206 MMUT Health Risk Pathogenic —
RS1767239952 MMUT Health Risk Likely pathogenic —
RS1767240242 MMUT Health Risk Likely pathogenic —
RS1767240499 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767243474 MMUT Health Risk Likely pathogenic —
RS1767253468 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
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