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: rs104894156
rs104894156
1 1.000 0.040 10 122582793 missense variant G/T snv 0.700 0
dbSNP: rs1064794096
rs1064794096
2 1.000 0.040 10 87864514 missense variant A/C;T snv 0.700 0
dbSNP: rs1554893792
rs1554893792
1 1.000 0.040 10 87894052 missense variant G/A snv 0.700 0
dbSNP: rs63751110
rs63751110
2 0.925 0.160 2 47410322 missense variant T/C;G snv 0.700 0
dbSNP: rs786202398
rs786202398
2 0.925 0.080 10 87925518 stop gained T/A;G snv 0.700 0
dbSNP: rs104894104
rs104894104
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1431316232
rs1431316232
1 1.000 0.040 9 22006021 missense variant A/G snv 0.010 1.000 1 1997 1997
dbSNP: rs749124997
rs749124997
1 1.000 0.040 12 102402539 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs786204929
rs786204929
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs17006625
rs17006625
3 0.925 0.080 3 20119604 missense variant A/C;G snv 4.0E-06; 3.3E-02 0.010 < 0.001 1 2000 2000
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2005 2005
dbSNP: rs1625895
rs1625895
13 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2007 2007
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs3092993
rs3092993
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs3770502
rs3770502
1 1.000 0.040 2 216180336 intron variant C/T snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs6519265
rs6519265
1 1.000 0.040 22 41629346 intron variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs828704
rs828704
1 1.000 0.040 2 216128888 intron variant C/A snv 0.81 0.010 1.000 1 2007 2007
dbSNP: rs9288516
rs9288516
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 < 0.001 1 2008 2008
dbSNP: rs1800371
rs1800371
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 < 0.001 1 2008 2008
dbSNP: rs3093739
rs3093739
1 1.000 0.040 13 108215053 intron variant A/G snv 8.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs699473
rs699473
5 0.827 0.160 4 24795181 intron variant C/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs10494090
rs10494090
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10924303
rs10924303
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009