Source: CLINVAR

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: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0