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: rs121908448
rs121908448
WRN
1 1.000 0.080 8 31090843 missense variant A/T snv 0.720 1.000 2 2000 2007
dbSNP: rs12673692
rs12673692
THSD7A
2 0.925 0.120 7 11528903 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1304645785
rs1304645785
WRN
1 1.000 0.080 8 31090532 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1554519449
rs1554519449
WRN
1 1.000 0.080 8 31068326 splice donor variant GGTA/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1563341296
rs1563341296
WRN
1 1.000 0.080 8 31085164 splice acceptor variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs1563376793
rs1563376793
WRN
1 1.000 0.080 8 31141776 splice donor variant G/C snv 0.700 1.000 1 2006 2006
dbSNP: rs267607008
rs267607008
WRN
1 1.000 0.080 8 31064962 missense variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs387906337
rs387906337
WRN
1 1.000 0.080 8 31064934 missense variant A/T snv 0.700 1.000 1 2006 2006
dbSNP: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009
dbSNP: rs7605378
rs7605378
FTCDNL1
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs878854131
rs878854131
WRN
1 1.000 0.080 8 31081190 frameshift variant A/- delins 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs121908447
rs121908447
WRN
1 1.000 0.080 8 31147397 stop gained C/T snv 0.700 0
dbSNP: rs1303126572
rs1303126572
WRN
1 1.000 0.080 8 31157509 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1361270203
rs1361270203
WRN
1 1.000 0.080 8 31067049 frameshift variant -/CT delins 0.700 0
dbSNP: rs1554519254
rs1554519254
WRN
1 1.000 0.080 8 31067035 frameshift variant -/AA delins 0.700 0
dbSNP: rs1554526707
rs1554526707
WRN
1 1.000 0.080 8 31111632 frameshift variant -/A delins 0.700 0
dbSNP: rs1554527775
rs1554527775
WRN
1 1.000 0.080 8 31116412 stop gained C/T snv 0.700 0
dbSNP: rs1554528411
rs1554528411
WRN
1 1.000 0.080 8 31120398 stop gained G/A snv 0.700 0
dbSNP: rs1563331288
rs1563331288
WRN
1 1.000 0.080 8 31067082 stop gained T/G snv 0.700 0
dbSNP: rs1563338837
rs1563338837
WRN
1 1.000 0.080 8 31081138 stop gained G/T snv 0.700 0
dbSNP: rs1563338855
rs1563338855
WRN
1 1.000 0.080 8 31081141 frameshift variant GA/C delins 0.700 0
dbSNP: rs1563357741
rs1563357741
WRN
1 1.000 0.080 8 31111696 stop gained C/T snv 0.700 0
dbSNP: rs1563376347
rs1563376347
WRN
1 1.000 0.080 8 31141456 stop gained T/A snv 0.700 0
dbSNP: rs1563376526
rs1563376526
WRN
1 1.000 0.080 8 31141564 stop gained T/G snv 0.700 0
dbSNP: rs1563382597
rs1563382597
WRN
1 1.000 0.080 8 31150450 frameshift variant G/- del 0.700 0