Disease: Methylmalonic acidemia with homocystinuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051998
rs796051998
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		T 0.700 GeneticVariation CLINVAR Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 24126030 2014
dbSNP: rs796051998
rs796051998
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		T 0.700 GeneticVariation CLINVAR Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006
dbSNP: rs796051998
rs796051998
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		T 0.700 CausalMutation CLINVAR