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: 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: rs121908448
rs121908448
WRN
1 1.000 0.080 8 31090843 missense variant A/T snv 0.720 1.000 2 2000 2007
dbSNP: rs2287679
rs2287679
GPATCH1
1 1.000 0.080 19 33109858 missense variant T/C snv 0.36 0.42 0.020 1.000 2 2016 2016
dbSNP: rs747319628
rs747319628
WRN
1 1.000 0.080 8 31132498 stop gained C/T snv 1.6E-05 2.8E-05 0.710 1.000 2 2006 2012
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: 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: 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: 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: 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: 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: 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: 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: rs121908447
rs121908447
WRN
1 1.000 0.080 8 31147397 stop gained C/T snv 0.700 0
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: rs1303126572
rs1303126572
WRN
1 1.000 0.080 8 31157509 stop gained C/T snv 7.0E-06 0.700 0