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: rs281865157
rs281865157
WRN
1 1.000 0.080 8 31108591 intron variant A/C;G snv 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: rs121908446
rs121908446
WRN
1 1.000 0.080 8 31157461 stop gained C/T snv 2.0E-05 2.1E-05 0.700 1.000 2 1996 1997
dbSNP: rs747319628
rs747319628
WRN
1 1.000 0.080 8 31132498 stop gained C/T snv 1.6E-05 2.8E-05 0.710 1.000 2 2006 2012
dbSNP: rs143916053
rs143916053
WRN
1 1.000 0.080 8 31111720 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs763089663
rs763089663
WRN
1 1.000 0.080 8 31111747 stop gained C/T snv 8.0E-06 0.700 1.000 1 2010 2010
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: 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: 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: 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: 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: rs371538747
rs371538747
WRN
1 1.000 0.080 8 31064406 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs757808169
rs757808169
WRN
1 1.000 0.080 8 31090857 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs774765029
rs774765029
WRN
1 1.000 0.080 8 31124556 stop gained C/T snv 2.4E-05 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: rs121908448
rs121908448
WRN
1 1.000 0.080 8 31090843 missense variant A/T snv 0.720 1.000 2 2000 2007
dbSNP: rs2287679
rs2287679
GPATCH1
1 1.000 0.080 19 33109858 missense variant T/C snv 0.36 0.42 0.020 1.000 2 2016 2016