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: rs772319506
rs772319506
WRN
1 1.000 0.080 8 31091900 splice donor variant T/G snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1563331288
rs1563331288
WRN
1 1.000 0.080 8 31067082 stop gained T/G snv 0.700 0
dbSNP: rs1563376526
rs1563376526
WRN
1 1.000 0.080 8 31141564 stop gained T/G snv 0.700 0
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
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2015 2015
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: rs1563376347
rs1563376347
WRN
1 1.000 0.080 8 31141456 stop gained T/A snv 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: rs1563338855
rs1563338855
WRN
1 1.000 0.080 8 31081141 frameshift variant GA/C delins 0.700 0
dbSNP: rs797045118
rs797045118
WRN
1 1.000 0.080 8 31065045 frameshift variant GA/- delins 7.0E-06 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: rs1563338837
rs1563338837
WRN
1 1.000 0.080 8 31081138 stop gained G/T snv 0.700 0
dbSNP: rs113993961
rs113993961
WRN
1 1.000 0.080 8 31141680 splice acceptor variant G/C snv 4.0E-06 0.700 1.000 5 1996 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: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009
dbSNP: rs1281075870
rs1281075870
WRN
1 1.000 0.080 8 31142702 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs777096501
rs777096501
WRN
1 1.000 0.080 8 31088966 splice donor variant G/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 1 2006 2006
dbSNP: rs776963381
rs776963381
WRN
1 1.000 0.080 8 31147052 splice acceptor variant G/A;T snv 2.0E-05 0.700 0
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2016 2016
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: 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: rs1554528411
rs1554528411
WRN
1 1.000 0.080 8 31120398 stop gained G/A snv 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