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: rs1284409960
rs1284409960
WRN
1 1.000 0.080 8 31147072 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1554526707
rs1554526707
WRN
1 1.000 0.080 8 31111632 frameshift variant -/A delins 0.700 0
dbSNP: rs587776621
rs587776621
WRN
1 1.000 0.080 8 31157462 frameshift variant -/A delins 0.700 0
dbSNP: rs1554519254
rs1554519254
WRN
1 1.000 0.080 8 31067035 frameshift variant -/AA delins 0.700 0
dbSNP: rs878854136
rs878854136
WRN
1 1.000 0.080 8 31120338 frameshift variant -/AT delins 0.700 0
dbSNP: rs1361270203
rs1361270203
WRN
1 1.000 0.080 8 31067049 frameshift variant -/CT delins 0.700 0
dbSNP: rs747587698
rs747587698
WRN
1 1.000 0.080 8 31064304 frameshift variant -/G delins 0.700 0
dbSNP: rs281865158
rs281865158
WRN
1 1.000 0.080 8 31111704 frameshift variant -/T delins 0.700 0
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: rs1563385391
rs1563385391
WRN
1 1.000 0.080 8 31154644 frameshift variant A/- delins 0.700 0
dbSNP: rs281865160
rs281865160
WRN
1 1.000 0.080 8 31150355 frameshift variant A/- delins 7.0E-06 0.700 0
dbSNP: rs778872619
rs778872619
WRN
1 1.000 0.080 8 31143616 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs878854133
rs878854133
WRN
1 1.000 0.080 8 31058455 frameshift variant A/-;AA delins 1.4E-05 0.700 0
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: rs281865159
rs281865159
WRN
1 1.000 0.080 8 31147362 splice acceptor variant A/C snv 0.700 0
dbSNP: rs75256744
rs75256744
HOXC4
1 1.000 0.080 12 54054322 missense variant A/C;G snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs281865157
rs281865157
WRN
1 1.000 0.080 8 31108591 intron variant A/C;G snv 0.700 0
dbSNP: rs369158322
rs369158322
WRN
1 1.000 0.080 8 31150454 missense variant A/C;T snv 4.0E-06 0.700 0
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: rs267607008
rs267607008
WRN
1 1.000 0.080 8 31064962 missense variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs121908448
rs121908448
WRN
1 1.000 0.080 8 31090843 missense variant A/T snv 0.720 1.000 2 2000 2007
dbSNP: rs387906337
rs387906337
WRN
1 1.000 0.080 8 31064934 missense variant A/T snv 0.700 1.000 1 2006 2006
dbSNP: rs776785728
rs776785728
WRN
1 1.000 0.080 8 31065058 frameshift variant AA/- delins 6.4E-05 2.1E-05 0.700 1.000 2 1997 2008
dbSNP: rs1244318419
rs1244318419
WRN
1 1.000 0.080 8 31076199 frameshift variant AACA/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs748860208
rs748860208
WRN
1 1.000 0.080 8 31141490 frameshift variant AACA/- delins 5.6E-05 0.700 0