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: rs1481893137
rs1481893137
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs1481893137
rs1481893137
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		CT 0.700 CausalMutation CLINVAR