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: rs137852635
rs137852635
SCNN1A ; LOC107984500
1 1.000 0.120 12 6348198 missense variant G/A snv 1.2E-05 0.800 1.000 3 1999 2008
dbSNP: rs137852706
rs137852706
SCNN1B
1 1.000 0.120 16 23348708 missense variant G/A snv 2.4E-05 7.0E-06 0.700 1.000 1 1996 1996
dbSNP: rs1182475940
rs1182475940
SCNN1B
1 1.000 0.120 16 23371805 stop gained C/A;G snv 7.0E-06 0.700 0
dbSNP: rs137852634
rs137852634
SCNN1A ; LOC107984500
2 0.925 0.160 12 6348981 stop gained G/A;C;T snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs1567262640
rs1567262640
SCNN1G
1 1.000 0.120 16 23189370 splice acceptor variant G/A snv 0.700 0
dbSNP: rs974854786
rs974854786
SCNN1A ; LOC107984500
1 1.000 0.120 12 6355777 missense variant C/A;T snv 4.0E-06 0.700 0