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: rs1239725461
rs1239725461
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs397515624
rs397515624
4 0.851 0.040 21 43169133 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2011
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: 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: rs1198082657
rs1198082657
2 0.925 0.040 12 50992197 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121434643
rs121434643
4 0.851 0.200 1 147908094 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs202235939
rs202235939
2 0.925 0.040 1 160679109 missense variant C/G snv 3.3E-04 2.4E-04 0.010 1.000 1 2004 2004
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: rs4733220
rs4733220
WRN
6 0.807 0.120 8 31043374 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs74315439
rs74315439
7 0.790 0.200 21 43172104 missense variant C/A;T snv 0.010 1.000 1 2007 2007