Gene: PGK1 ×
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: rs377001714
rs377001714
PGK1
2 1.000 0.040 X 78118074 missense variant C/T snv 1.1E-05 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs797045360
rs797045360
ATP7A ; PGK1
2 1.000 0.160 X 78015810 missense variant C/T snv 0.010 1.000 1 2017 2017