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
RS2142960311 CARMIL2 Health Risk Pathogenic —
RS2142960989 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142963941 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142964399 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142965218 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142965332 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142966615 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142967119 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142967340 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142969054 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142969408 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142969655 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142969688 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142969858 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142969951 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142974010 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142974234 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142976531 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142976575 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142976616 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142977168 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142978093 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142979402 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142980883 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142981161 CTNS Health Risk Pathogenic Ocular cystinosis, Inborn genetic diseases
RS2142981652 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Cystinosis
RS2142981920 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142982040 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142982293 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142982313 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142982389 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142982540 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS2142982656 CTNS Health Risk Pathogenic/Likely pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS2142984544 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142985073 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142987900 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142988018 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142990005 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142990593 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2142992359 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142992372 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142992383 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142992401 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142992407 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142992422 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993764 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993793 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993795 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993804 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993806 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142993816 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993827 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993846 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993863 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142993865 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142993896 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142995734 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142995760 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142995810 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142995845 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142995871 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142995881 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142996885 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142998794 HERC1 Health Risk Pathogenic —
RS2142999142 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142999166 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142999169 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142999186 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142999197 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142999202 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2142999207 GALNS Health Risk Conflicting classifications of pathogenicity Morquio syndrome, Mucopolysaccharidosis
RS2142999219 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2142999330 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143001103 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001121 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001135 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001162 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143001165 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001182 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001210 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143001213 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001380 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143001391 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001400 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001415 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001417 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001422 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001434 RAI1 Health Risk Pathogenic/Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS2143001453 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001463 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001466 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Smith-Magenis syndrome
RS2143001498 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS2143001706 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143001744 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143001748 RAI1 Health Risk Pathogenic —
RS2143001767 RAI1 Health Risk Pathogenic —
RS2143002175 RAI1 Health Risk Pathogenic —
RS2143002309 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2143002317 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS2143002326 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
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