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: rs387906402
rs387906402
SCNN1B
1 1.000 0.120 16 23380725 missense variant C/G;T snv 0.820 1.000 8 1995 2017
dbSNP: rs137852707
rs137852707
SCNN1B
1 1.000 0.120 16 23380736 missense variant T/C snv 0.800 1.000 6 1995 2005
dbSNP: rs137852708
rs137852708
SCNN1B
1 1.000 0.120 16 23380727 missense variant C/T snv 0.800 1.000 6 1995 2005
dbSNP: rs137852705
rs137852705
SCNN1B
1 1.000 0.120 16 23380731 missense variant C/G;T snv 0.710 1.000 7 1995 2008
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: rs149868979
rs149868979
SCNN1B
2 1.000 0.120 16 23380566 missense variant G/A snv 1.5E-04 1.5E-04 0.010 1.000 1 2011 2011