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: rs201186470
rs201186470
PCK1
1 1.000 0.120 20 57563691 missense variant G/A snv 1.2E-03 1.1E-03 0.700 1.000 3 2014 2017
dbSNP: rs202197769
rs202197769
PCK1
1 1.000 0.120 20 57561545 missense variant T/C snv 8.8E-05 3.5E-05 0.700 0