Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729231
rs794729231
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR Splice site mutations in the ATP7A gene. 21494555

2011
dbSNP: rs794729231
rs794729231
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		C 0.700 CausalMutation CLINVAR