Gene: PGAM4 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138178131
rs138178131
ATP7A ; PGK1 ; PGAM4
1 1.000 0.040 X 77969564 missense variant C/A;G snv 5.5E-06; 3.2E-03 7.9E-04 0.010 < 0.001 1 2013 2013