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: 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: 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: 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: rs121908447
rs121908447
WRN
1 1.000 0.080 8 31147397 stop gained C/T snv 0.700 0
dbSNP: rs121908448
rs121908448
WRN
1 1.000 0.080 8 31090843 missense variant A/T snv 0.720 1.000 2 2000 2007
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: 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: 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: rs1284409960
rs1284409960
WRN
1 1.000 0.080 8 31147072 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1303126572
rs1303126572
WRN
1 1.000 0.080 8 31157509 stop gained C/T snv 7.0E-06 0.700 0
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: rs1361270203
rs1361270203
WRN
1 1.000 0.080 8 31067049 frameshift variant -/CT delins 0.700 0
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: rs1554519254
rs1554519254
WRN
1 1.000 0.080 8 31067035 frameshift variant -/AA delins 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: rs1554526707
rs1554526707
WRN
1 1.000 0.080 8 31111632 frameshift variant -/A delins 0.700 0
dbSNP: rs1554527775
rs1554527775
WRN
1 1.000 0.080 8 31116412 stop gained C/T snv 0.700 0
dbSNP: rs1554528411
rs1554528411
WRN
1 1.000 0.080 8 31120398 stop gained G/A snv 0.700 0
dbSNP: rs1563331288
rs1563331288
WRN
1 1.000 0.080 8 31067082 stop gained T/G snv 0.700 0
dbSNP: rs1563338837
rs1563338837
WRN
1 1.000 0.080 8 31081138 stop gained G/T snv 0.700 0
dbSNP: rs1563338855
rs1563338855
WRN
1 1.000 0.080 8 31081141 frameshift variant GA/C delins 0.700 0
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: rs1563357741
rs1563357741
WRN
1 1.000 0.080 8 31111696 stop gained C/T snv 0.700 0