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
RS2481228543 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481228587 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481228800 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481229205 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481229568 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481232940 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481233298 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481233656 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481234224 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481235015 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481235131 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2481235367 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481236055 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481251176 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481251243 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481251449 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Heimler syndrome 2
RS2481251681 PEX6 Health Risk Pathogenic —
RS2481257654 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481257723 PEX6 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 2, Peroxisome biogenesis disorder
RS2481258347 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481258611 PEX6 Health Risk Pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481258763 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481258885 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481258932 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481266925 NEUROG1 Health Risk Pathogenic Cranial dysinnervation disorder, congenital
RS2481273398 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481274937 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481275322 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481276205 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481276451 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481277016 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481277081 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481277352 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481277379 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2481277519 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481277530 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481278028 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481279008 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481279237 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481280407 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481280811 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481281348 PEX6 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 2, Peroxisome biogenesis disorder
RS2481281479 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4B
RS2481281490 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481281882 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481282209 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481283458 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481283756 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481291540 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS2481294162 MMUT Health Risk Likely pathogenic —
RS2481298544 CD2AP Health Risk Likely pathogenic Focal segmental glomerulosclerosis 3, susceptibility to
RS2481301140 MMUT Health Risk Likely pathogenic —
RS2481306701 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2481310544 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481310789 MMUT Health Risk Pathogenic —
RS2481311030 MMUT Health Risk Likely pathogenic —
RS2481314545 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481314947 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481320324 MMUT Health Risk Likely pathogenic —
RS2481320629 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481326703 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481326733 MMUT Health Risk Conflicting classifications of pathogenicity —
RS2481326895 MMUT Health Risk Pathogenic —
RS2481326952 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481327951 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481328299 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481328329 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481329629 MMUT Health Risk Likely pathogenic —
RS2481333667 MMUT Health Risk Likely pathogenic —
RS2481333863 MMUT Health Risk Pathogenic —
RS2481334231 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481334478 MMUT Health Risk Pathogenic —
RS2481339003 MMUT Health Risk Pathogenic —
RS2481339111 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481339188 MMUT Health Risk Pathogenic —
RS2481339303 MMUT Health Risk Pathogenic Neonatal encephalopathy, Neonatal encephalopathy
RS2481343909 MMUT Health Risk Pathogenic —
RS2481343923 MMUT Health Risk Likely pathogenic —
RS2481343980 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481346423 MMUT Health Risk Pathogenic —
RS2481347058 MMUT Health Risk Pathogenic —
RS2481347095 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS2481347349 MMUT Health Risk Pathogenic —
RS2481347515 MMUT Health Risk Conflicting classifications of pathogenicity —
RS2481347532 MMUT Health Risk Likely pathogenic —
RS2481347699 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481347735 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481347763 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481347809 MMUT Health Risk Pathogenic —
RS2481347836 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS2481349847 MMUT Health Risk Likely pathogenic —
RS2481350198 MMUT Health Risk Pathogenic —
RS2481350413 MMUT Health Risk Pathogenic —
RS2481350851 MMUT Health Risk Pathogenic —
RS2481350917 MMUT Health Risk Pathogenic —
RS2481377410 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481385860 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481394317 NEU1 Health Risk Pathogenic —
RS2481394872 NEU1 Health Risk Pathogenic —
RS2481395324 NEU1 Health Risk Likely pathogenic Sialidosis, Sialidosis
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