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: rs1257204721
rs1257204721
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		A 0.700 GeneticVariation CLINVAR Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 19370762 2009
dbSNP: rs1257204721
rs1257204721
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
CUI: C1848561
Disease:
Methylmalonic acidemia with homocystinuria 		A 0.700 GeneticVariation CLINVAR Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 16311595 2006