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: rs137853588
rs137853588
PHKG2
1 1.000 0.080 16 30756191 missense variant G/A snv 0.800 1.000 3 1996 2003
dbSNP: rs137853589
rs137853589
PHKG2
1 1.000 0.080 16 30751594 missense variant T/A snv 0.800 1.000 3 1996 2003
dbSNP: rs752961445
rs752961445
PHKG2
1 1.000 0.080 16 30753470 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2003 2003
dbSNP: rs1270523244
rs1270523244
PHKG2
1 1.000 0.080 16 30753554 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs137853590
rs137853590
PHKG2
3 0.882 0.160 16 30751140 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs137853591
rs137853591
PHKG2
1 1.000 0.080 16 30753434 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs137853592
rs137853592
PHKG2
1 1.000 0.080 16 30756396 missense variant T/G snv 0.700 0
dbSNP: rs1555467052
rs1555467052
PHKG2
1 1.000 0.080 16 30751593 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555467557
rs1555467557
PHKG2
1 1.000 0.080 16 30756390 stop gained TC/AA mnv 0.700 0
dbSNP: rs1567260747
rs1567260747
PHKG2
1 1.000 0.080 16 30751259 frameshift variant G/- delins 0.700 0
dbSNP: rs767427889
rs767427889
PHKG2
1 1.000 0.080 16 30756268 missense variant G/A snv 2.8E-05 1.4E-05 0.700 0