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
RS1767255532 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1767266871 EYS Health Risk Pathogenic —
RS1767268002 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1767268980 EYS Health Risk Pathogenic —
RS1767284074 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767285193 MMUT Health Risk Pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1767285621 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767285693 MMUT Health Risk Likely pathogenic —
RS1767289269 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767308310 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1767310072 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1767312015 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1767313373 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767314344 COL12A1 Health Risk Pathogenic Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS1767330976 LEMD2 Health Risk Conflicting classifications of pathogenicity 19 conditions, Marbach-Rustad progeroid syndrome
RS1767343654 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1767361855 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767365298 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767368923 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767406859 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1767411335 PHIP Health Risk Pathogenic —
RS1767417868 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767424632 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1767433090 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767437018 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767442652 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767453857 MOCS1 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1767475786 MMUT Health Risk Pathogenic —
RS1767478925 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767479902 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767488078 ADGRV1 Health Risk Pathogenic —
RS1767491456 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767499634 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767507722 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767509933 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767549304 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767552099 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767553642 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1767555126 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767556193 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767558268 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767558588 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767600988 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1767601116 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1767601438 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1767601715 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1767612147 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1767615100 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767617149 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767678885 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767680613 MMUT Health Risk Pathogenic —
RS1767682543 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767683238 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767683356 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1767685068 EYS Health Risk Pathogenic —
RS1767696253 EYS Health Risk Likely pathogenic —
RS1767697739 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1767699695 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1767726007 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767732703 MMUT Health Risk Likely pathogenic —
RS1767735337 MMUT Health Risk Pathogenic —
RS1767737608 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767738752 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1767739165 MMUT Health Risk Pathogenic —
RS1767739242 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767770379 MMUT Health Risk Pathogenic —
RS1767780776 MMUT Health Risk Likely pathogenic —
RS1767786464 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767805645 SLC17A5 Health Risk Likely pathogenic Salla disease, SLC17A5-related disorder
RS1767828321 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1767850450 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1767963781 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1767988429 ADGRV1 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1768014561 GUCA1A Health Risk Likely pathogenic Cone dystrophy 3, Cone dystrophy 3
RS1768015203 GUCA1A Health Risk Conflicting classifications of pathogenicity —
RS1768016404 GUCA1A Health Risk Pathogenic Cone dystrophy 3, Cone dystrophy 3
RS1768016995 GUCA1ANB-GUCA1A;GUCA1B;GUCA1A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone dystrophy 3
RS1768018709 GUCA1A;GUCA1ANB-GUCA1A Health Risk Likely pathogenic Cone dystrophy 3, Cone dystrophy 3
RS1768029728 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768035083 GUCA1ANB-GUCA1A;GUCA1A Health Risk Likely pathogenic Cone dystrophy 3, Retinitis pigmentosa
RS1768035931 GUCA1A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Cone-rod dystrophy
RS1768038999 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1768050305 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic Cone dystrophy 3, Cone dystrophy 3
RS1768123584 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1768168686 SLC17A5 Health Risk Pathogenic Salla disease, Sialic acid storage disease
RS1768174708 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS1768254382 MOCS1 Health Risk Pathogenic/Likely pathogenic MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1768262580 MOCS1 Health Risk Pathogenic MOCS1-related disorder, MOCS1-related disorder
RS1768323686 GLE1 Health Risk Likely pathogenic —
RS1768339358 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768343542 EYS Health Risk Pathogenic —
RS1768344207 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768346138 EYS Health Risk Pathogenic —
RS1768346880 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1768348055 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1768349624 EYS Health Risk Pathogenic —
RS1768352205 EYS Health Risk Pathogenic —
RS1768352761 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1768356177 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1768357555 EYS Health Risk Pathogenic —
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