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: rs17401966
rs17401966
KIF1B
2 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 2 2010 2019
dbSNP: rs11554290
rs11554290
NRAS
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
19 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
6 0.807 0.200 2 177234081 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
6 0.807 0.200 2 177234080 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs10931481
rs10931481
STAT4
2 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.700 1.000 1 2013 2013
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: rs121913500
rs121913500
IDH1
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1517352
rs1517352
STAT4
5 0.851 0.160 2 191066738 intron variant A/C snv 0.45 0.700 1.000 1 2013 2013
dbSNP: rs17007417
rs17007417 		3 0.882 0.080 2 71808541 regulatory region variant T/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs3024921
rs3024921
STAT4
2 0.925 0.120 2 191078546 intron variant A/T snv 3.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs3821236
rs3821236
STAT4
3 0.882 0.160 2 191038032 intron variant G/A snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs754688962
rs754688962
SF3B1
5 0.851 0.200 2 197402637 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
STAT4
11 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.909 1 2013 2019
dbSNP: rs587776665
rs587776665
CASP8
1 1.000 0.080 2 201285238 frameshift variant GT/- delins 0.700 0
dbSNP: rs121913274
rs121913274
PIK3CA
30 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.800 1.000 2 2005 2016
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: rs4678680
rs4678680
LOC105377022
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 2 2010 2016
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: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519925
rs1057519925
PIK3CA
24 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016