Disease: Very long chain fatty acid accumulation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557055405
rs1557055405
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C3279397
Disease:
Very long chain fatty acid accumulation 		A 0.700 GeneticVariation CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998