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
RS2505813674 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505813839 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505814781 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2505815582 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505815744 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505815768 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505815924 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505815947 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS2505816525 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS2505816823 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505816957 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505817125 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505817175 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505817193 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505819682 CLCN7 Health Risk Likely pathogenic Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4
RS2505821967 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505822019 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS2505822076 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505822193 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505822290 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505822301 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505822304 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505824870 CLCN7 Health Risk Pathogenic —
RS2505825222 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505825473 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505825546 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505825556 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505825772 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505828744 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505829213 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505829304 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505829330 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505829401 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505829426 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505829538 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505831279 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505831580 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505831656 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505831709 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505832456 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2505833420 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS2505833486 CLCN7 Health Risk Pathogenic —
RS2505834785 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505834859 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505835772 CLCN7 Health Risk Likely pathogenic —
RS2505837220 CLCN7 Health Risk Likely pathogenic —
RS2505840319 CLCN7 Health Risk Pathogenic —
RS2505841612 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505842572 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505842582 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505844147 CLCN7 Health Risk Pathogenic —
RS2505844477 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505844514 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505844529 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505844602 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505845138 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505845545 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505845675 CLCN7 Health Risk Pathogenic —
RS2505848226 CLCN7 Health Risk Likely pathogenic —
RS2505849026 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505849083 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505850100 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505850314 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505850316 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505850594 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505850609 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505850621 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505853708 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505853729 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505853870 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505853906 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505854156 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505854274 CLCN7 Health Risk Likely pathogenic —
RS2505855036 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505855047 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505856822 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505856831 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505856991 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505859174 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505859229 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505859888 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505860286 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505860309 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505860539 RLBP1 Health Risk Pathogenic —
RS2505861241 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505861280 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505861322 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505861359 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505862101 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2505862556 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505862819 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505862898 RLBP1 Health Risk Pathogenic —
RS2505862930 RLBP1 Health Risk Likely pathogenic Bothnia retinal dystrophy, Bothnia retinal dystrophy
RS2505863513 RLBP1 Health Risk Likely pathogenic Bothnia retinal dystrophy, Bothnia retinal dystrophy
RS2505863979 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505865153 RLBP1 Health Risk Pathogenic —
RS2505866040 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505868653 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS2505872051 PATL2 Health Risk Pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS2505879863 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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