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: rs1057516045
rs1057516045
LBR
8 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs137852605
rs137852605
LBR
1 1.000 0.080 1 225422087 missense variant G/A snv 7.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs137852606
rs137852606
LBR
1 1.000 0.080 1 225403445 missense variant G/C snv 0.700 1.000 1 2003 2003
dbSNP: rs387906416
rs387906416
LBR
2 0.925 0.120 1 225404486 stop gained TAGAAGA/CTTCTAG mnv 0.700 0
dbSNP: rs863223326
rs863223326
LBR
2 0.925 0.120 1 225424041 frameshift variant ACCA/- del 0.700 0
dbSNP: rs886037616
rs886037616
LBR
2 0.925 0.080 1 225404531 non coding transcript exon variant ATAAAA/- delins 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 0.010 1.000 1 2018 2018