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: 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: 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: rs878854133
rs878854133
WRN
1 1.000 0.080 8 31058455 frameshift variant A/-;AA delins 1.4E-05 0.700 0
dbSNP: rs1198210848
rs1198210848
WRN
1 1.000 0.080 8 31058535 stop gained G/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs758988621
rs758988621
WRN
1 1.000 0.080 8 31064288 splice acceptor variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs747587698
rs747587698
WRN
1 1.000 0.080 8 31064304 frameshift variant -/G delins 0.700 0
dbSNP: rs371538747
rs371538747
WRN
1 1.000 0.080 8 31064406 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs2230009
rs2230009
WRN
5 0.827 0.240 8 31064419 missense variant G/A snv 5.8E-02 7.8E-02 0.030 0.667 3 2013 2016
dbSNP: rs387906337
rs387906337
WRN
1 1.000 0.080 8 31064934 missense variant A/T 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: rs797045118
rs797045118
WRN
1 1.000 0.080 8 31065045 frameshift variant GA/- delins 7.0E-06 0.700 0
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: rs1554519254
rs1554519254
WRN
1 1.000 0.080 8 31067035 frameshift variant -/AA delins 0.700 0
dbSNP: rs1361270203
rs1361270203
WRN
1 1.000 0.080 8 31067049 frameshift variant -/CT delins 0.700 0
dbSNP: rs752830087
rs752830087
WRN
1 1.000 0.080 8 31067052 frameshift variant G/- delins 1.2E-05 0.700 0
dbSNP: rs1563331288
rs1563331288
WRN
1 1.000 0.080 8 31067082 stop gained T/G snv 0.700 0
dbSNP: rs370324188
rs370324188
WRN
1 1.000 0.080 8 31068276 stop gained C/T snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1554519449
rs1554519449
WRN
1 1.000 0.080 8 31068326 splice donor variant GGTA/- delins 0.700 1.000 1 2006 2006
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: rs17847577
rs17847577
WRN
2 0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 0.700 1.000 6 1996 2015
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: 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: rs1563341296
rs1563341296
WRN
1 1.000 0.080 8 31085164 splice acceptor variant A/G snv 0.700 1.000 1 2006 2006
dbSNP: rs780555196
rs780555196
WRN
1 1.000 0.080 8 31088891 frameshift variant C/- del 2.8E-05 2.1E-05 0.700 0