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: rs10106
rs10106
FPGS
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10235796
rs10235796
IKZF1
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs10272724
rs10272724 		4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs104893636
rs104893636
HOXD3 ; HOXD4
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
SLC19A1
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
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: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519743
rs1057519743
CRLF2
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs10740055
rs10740055
ARID5B
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs10828317
rs10828317
PIP4K2A
9 0.776 0.280 10 22550699 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs10853104
rs10853104
IGF2BP1
1 1.000 0.120 17 49014714 intron variant C/G;T snv 0.010 1.000 1 2019 2019
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: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs111978267
rs111978267
KCNQ1
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 < 0.001 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
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: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913451
rs121913451
ABL1
4 0.851 0.160 9 130872903 missense variant C/A;G snv 0.010 1.000 1 2014 2014