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: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.020 1.000 2 2011 2019
dbSNP: rs398122937
rs398122937
3 0.882 0.040 13 20142862 missense variant C/T snv 0.020 1.000 2 2013 2018
dbSNP: rs104893685
rs104893685
3 0.882 0.040 3 133450432 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs104893736
rs104893736
5 0.827 0.040 3 186539566 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1114167307
rs1114167307
4 0.851 0.200 13 20143233 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs118203966
rs118203966
3 0.882 0.040 20 33851064 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121909598
rs121909598
3 0.882 0.040 2 208121728 stop gained C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912973
rs121912973
3 0.882 0.040 21 43172105 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1250875000
rs1250875000
2 0.925 0.040 21 6560927 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs140372256
rs140372256
2 0.925 0.040 2 208160859 stop gained C/A;G;T snv 1.5E-04; 1.6E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1463326176
rs1463326176
4 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.010 1.000 1 2016 2016
dbSNP: rs1483130765
rs1483130765
2 0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs150516929
rs150516929
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs150857132
rs150857132
4 0.851 0.200 2 208124183 missense variant C/A;T snv 4.4E-04; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
dbSNP: rs267607087
rs267607087
5 0.851 0.120 9 92047261 missense variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338
WRN
7 0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs2725383
rs2725383
WRN
6 0.807 0.120 8 31075099 intron variant C/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs28931605
rs28931605
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs33972313
rs33972313
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs375933774
rs375933774
2 0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs398122392
rs398122392
3 0.882 0.040 2 208128258 stop gained C/A;G;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2009 2009