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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.871 31 2005 2019
dbSNP: rs10821936
rs10821936
ARID5B
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.100 1.000 11 2009 2019
dbSNP: rs4132601
rs4132601
IKZF1
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.100 1.000 10 2009 2019
dbSNP: rs7089424
rs7089424
ARID5B
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.090 1.000 9 2009 2019
dbSNP: rs10994982
rs10994982
ARID5B
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.070 0.857 7 2009 2019
dbSNP: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.070 0.857 7 2009 2017
dbSNP: rs3731217
rs3731217
CDKN2A
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.050 1.000 5 2010 2018
dbSNP: rs11978267
rs11978267
IKZF1
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.040 0.750 4 2013 2019
dbSNP: rs3824662
rs3824662
GATA3
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.030 1.000 3 2013 2017
dbSNP: rs7088318
rs7088318
PIP4K2A
4 0.851 0.120 10 22564019 intron variant C/A snv 0.55 0.030 0.667 3 2013 2016
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.030 1.000 3 2016 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.020 1.000 2 2009 2012
dbSNP: rs10519612
rs10519612
IL15
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.020 1.000 2 2010 2015
dbSNP: rs10740055
rs10740055
ARID5B
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.020 1.000 2 2010 2014
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2009 2010
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.020 1.000 2 2002 2013
dbSNP: rs17007695
rs17007695 		4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.020 1.000 2 2010 2015
dbSNP: rs1801265
rs1801265
DPYD
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.020 1.000 2 2016 2017
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2016 2016
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.020 1.000 2 2010 2018
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 1999 2018
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2013 2013
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: rs1020608187
rs1020608187
SDS
1 1.000 0.120 12 113398843 missense variant C/G snv 7.0E-06 0.010 1.000 1 2011 2011
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