rs72554646, ATP7A;PGK1

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Menkes Kinky Hair Syndrome
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
99 1.000 0.160 X 78015873 missense variant T/G snv 0.710 1.000 10 1994 2012