Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
0.925 0.240 X 78042694 missense variant A/G snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 1.000 5 1997 2012
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
0.925 0.240 X 78042694 missense variant A/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0