Disease: Homocystinuria, CblD Type, Variant 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204044
rs118204044
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
CUI: C1848553
Disease:
Homocystinuria, CblD Type, Variant 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs118204045
rs118204045
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
CUI: C1848553
Disease:
Homocystinuria, CblD Type, Variant 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs118204046
rs118204046
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
CUI: C1848553
Disease:
Homocystinuria, CblD Type, Variant 1 		C 0.700 CausalMutation CLINVAR