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: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2002 2002
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs20576
rs20576
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2006 2006
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs563378859
rs563378859
8 0.851 0.320 17 7675146 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs2509049
rs2509049
6 0.827 0.160 11 119095811 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs604714
rs604714
3 0.925 0.120 11 119099986 intron variant C/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2016
dbSNP: rs1392080411
rs1392080411
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6083471
rs6083471
3 0.882 0.240 20 24274115 intergenic variant T/C snv 2.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs80351309
rs80351309
3 0.882 0.240 4 7076231 regulatory region variant C/T snv 1.1E-03 0.010 1.000 1 2017 2017