Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045390
rs797045390
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442

2011
dbSNP: rs797045390
rs797045390
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.800 CausalMutation CLINVAR