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: rs121908448
rs121908448
WRN
1 1.000 0.080 8 31090843 missense variant A/T snv 0.720 1.000 2 2000 2007
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: 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: 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: rs387906337
rs387906337
WRN
1 1.000 0.080 8 31064934 missense variant A/T snv 0.700 1.000 1 2006 2006
dbSNP: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009
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: rs763089663
rs763089663
WRN
1 1.000 0.080 8 31111747 stop gained C/T snv 8.0E-06 0.700 1.000 1 2010 2010
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: 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: rs121908447
rs121908447
WRN
1 1.000 0.080 8 31147397 stop gained C/T snv 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
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