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: rs1293789661
rs1293789661
CLCN2
7 0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs137853066
rs137853066
KCNJ10
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs397508288
rs397508288
CFTR
3 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs77409459
rs77409459
CFTR
4 0.851 0.160 7 117540243 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 1998 1998