Source: CURATED ×
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: rs9277535
rs9277535
HLA-DPB1
5 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.740 0.800 1 2012 2015
dbSNP: rs121913279
rs121913279
PIK3CA
48 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.730 1.000 1 2008 2019
dbSNP: rs104886003
rs104886003
PIK3CA
35 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 1 2008 2019
dbSNP: rs121912654
rs121912654
TP53
3 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.720 1.000 0 2011 2011
dbSNP: rs28931589
rs28931589
CTNNB1
13 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.710 1.000 2 2014 2016
dbSNP: rs10272859
rs10272859
CDK14
2 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.710 1.000 1 2018 2018
dbSNP: rs121912655
rs121912655
TP53
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.710 1.000 1 2004 2016
dbSNP: rs121912656
rs121912656
TP53
20 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2012 2016
dbSNP: rs121912666
rs121912666
TP53
24 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.710 1.000 1 2016 2019
dbSNP: rs121913273
rs121913273
PIK3CA
25 0.605 0.440 3 179218294 missense variant G/A;C snv 0.710 1.000 1 2008 2016
dbSNP: rs121913499
rs121913499
IDH1
18 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2016 2017
dbSNP: rs375874539
rs375874539
TP53
11 0.732 0.320 17 7674237 missense variant G/A;C snv 0.710 0.500 1 2009 2016
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 < 0.001 0 2017 2017
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 3 2004 2016
dbSNP: rs1554040964
rs1554040964
TERT
1 1.000 0.080 5 1279417 missense variant C/G snv 0.700 1.000 2 2013 2017
dbSNP: rs3096380
rs3096380
CMTR2
1 1.000 0.080 16 71285743 missense variant G/A;C snv 0.94 0.700 1.000 2 2019 2019
dbSNP: rs34675408
rs34675408
OSMR
1 1.000 0.080 5 38883969 missense variant T/G snv 8.3E-02 9.7E-02 0.700 1.000 2 2019 2019
dbSNP: rs584368
rs584368 		1 1.000 0.080 11 88232053 regulatory region variant C/T snv 0.70 0.700 1.000 2 2019 2019
dbSNP: rs6078460
rs6078460 		1 1.000 0.080 20 12116249 intergenic variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs913493
rs913493
PCDH9
1 1.000 0.080 13 67148073 intron variant A/G snv 0.20 0.700 1.000 2 2019 2019
dbSNP: rs10484561
rs10484561 		4 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
23 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016