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: rs137852704
rs137852704
SCNN1B
6 0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879255348
rs879255348
NR3C2
1 1.000 0.120 4 148435452 stop gained G/T snv 0.700 0
dbSNP: rs121912565
rs121912565
NR3C2
2 0.925 0.120 4 148154589 missense variant T/C snv 0.010 < 0.001 1 2003 2003