Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201777056
rs201777056
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
CUI: C3553915
Disease:
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.800 GeneticVariation UNIPROT Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
dbSNP: rs201777056
rs201777056
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
CUI: C3553915
Disease:
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387907315
rs387907315
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
CUI: C3553915
Disease:
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		CAG 0.700 CausalMutation CLINVAR
dbSNP: rs767795583
rs767795583
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
CUI: C3553915
Disease:
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769364566
rs769364566
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
CUI: C3553915
Disease:
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		A 0.700 CausalMutation CLINVAR