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: rs1304645785
rs1304645785
WRN
1 1.000 0.080 8 31090532 missense variant G/A snv 0.010 1.000 1 2013 2013
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: 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: 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: rs267607008
rs267607008
WRN
1 1.000 0.080 8 31064962 missense variant A/G snv 0.700 1.000 1 2006 2006
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: rs387906337
rs387906337
WRN
1 1.000 0.080 8 31064934 missense variant A/T snv 0.700 1.000 1 2006 2006
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: rs75256744
rs75256744
HOXC4
1 1.000 0.080 12 54054322 missense variant A/C;G snv 0.15 0.010 1.000 1 2016 2016
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: rs369158322
rs369158322
WRN
1 1.000 0.080 8 31150454 missense variant A/C;T snv 4.0E-06 0.700 0
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: rs1554519449
rs1554519449
WRN
1 1.000 0.080 8 31068326 splice donor variant GGTA/- delins 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: 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: 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: 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: 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: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009
dbSNP: rs878854131
rs878854131
WRN
1 1.000 0.080 8 31081190 frameshift variant A/- delins 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs1244318419
rs1244318419
WRN
1 1.000 0.080 8 31076199 frameshift variant AACA/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1284409960
rs1284409960
WRN
1 1.000 0.080 8 31147072 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1361270203
rs1361270203
WRN
1 1.000 0.080 8 31067049 frameshift variant -/CT delins 0.700 0
dbSNP: rs1554519254
rs1554519254
WRN
1 1.000 0.080 8 31067035 frameshift variant -/AA delins 0.700 0
dbSNP: rs1554526707
rs1554526707
WRN
1 1.000 0.080 8 31111632 frameshift variant -/A delins 0.700 0