Gene: ATP7A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
T 0.700 CausalMutation CLINVAR

dbSNP: rs72554644
rs72554644
ATP7A ; PGK1
0.010 GeneticVariation BEFREE Two patients with the same G727R missense mutation both developed seizures that evolved with age but differed in severity. 24882692

2015