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: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs78380171
rs78380171
LOC101927518
2 0.925 0.120 3 86720838 intergenic variant A/G snv 6.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs10519612
rs10519612
IL15
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs11099592
rs11099592
HPSE
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2007 2007
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs1966862
rs1966862
ARHGAP24
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs2231137
rs2231137
ABCG2
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2008 2008
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6535455
rs6535455
HPSE
4 0.851 0.160 4 83310951 intron variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs76996680
rs76996680
LEF1
3 0.882 0.120 4 108163665 missense variant G/A snv 1.0E-03 3.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs772470710
rs772470710
NSD2
3 0.882 0.120 4 1961074 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs1194008138
rs1194008138
NR3C1
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1361742125
rs1361742125
NR3C1
3 0.882 0.120 5 143399842 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1412792500
rs1412792500
NR3C1
3 0.882 0.120 5 143400541 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1427331568
rs1427331568
NR3C1
3 0.882 0.120 5 143314010 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2019 2019