Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779893448
rs779893448
MMACHC ; CCDC163
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		A 0.700 CausalMutation CLINVAR Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 18164228

2008
dbSNP: rs779893448
rs779893448
MMACHC ; CCDC163
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		A 0.700 CausalMutation CLINVAR Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595

2006