PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Disease: Pallor ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554640
rs72554640
Entrez Id: 538;5230
Gene Symbol: ATP7A;PGK1
ATP7A;PGK1
CUI: C0030232
Disease:
Pallor 		T 0.700 CausalMutation CLINVAR