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: rs797045332
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs797045332
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs797045332
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0