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: 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: 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: 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: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009
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: rs188554751
rs188554751
WRN
4 0.851 0.200 8 31120403 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3087425
rs3087425
WRN
3 0.882 0.160 8 31120294 missense variant C/T snv 2.8E-03 8.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs71530910
rs71530910
WFS1
3 0.882 0.360 4 6301680 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2014 2014
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: 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: 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: 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: 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
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: 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: 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: rs1304645785
rs1304645785
WRN
1 1.000 0.080 8 31090532 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1383589957
rs1383589957
WRN
1 1.000 0.080 8 31111628 frameshift variant AC/- delins 4.0E-06 2.8E-05 0.700 1.000 1 2005 2005
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: 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