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: rs12718598
rs12718598
IKZF1
3 7 50360747 intron variant T/C snv 0.50 0.700 1.000 3 2012 2017
dbSNP: rs737092
rs737092 		7 20 57415349 regulatory region variant T/C snv 0.58 0.700 1.000 3 2012 2018
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2016 2018
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2017
dbSNP: rs112233623
rs112233623
CCND3
5 6 41957260 intron variant C/T snv 7.0E-03 0.700 1.000 2 2016 2016
dbSNP: rs1134634
rs1134634
CC2D2A
2 4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06 0.700 1.000 2 2016 2018
dbSNP: rs11970772
rs11970772
CCND3
5 6 41957552 intron variant T/A snv 0.24 0.700 1.000 2 2009 2016
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 2 2019 2019
dbSNP: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 2 2016 2018
dbSNP: rs1505307
rs1505307
THRB
7 3 24301839 intron variant T/C snv 0.60 0.700 1.000 2 2017 2018
dbSNP: rs17720193
rs17720193
NCOA4
2 10 46017981 intron variant A/G snv 2.5E-02 0.700 1.000 2 2017 2018
dbSNP: rs218265
rs218265 		10 4 54542832 intergenic variant T/C snv 0.21 0.700 1.000 2 2016 2017
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 2 2017 2019
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 2 2016 2017
dbSNP: rs4449583
rs4449583
TERT
5 5 1284020 intron variant C/T snv 0.25 0.700 1.000 2 2016 2018
dbSNP: rs4672497
rs4672497 		5 2 62296430 TF binding site variant C/G;T snv 0.700 1.000 2 2016 2018
dbSNP: rs5754217
rs5754217
UBE2L3
7 0.925 0.120 22 21585386 intron variant G/T snv 0.31 0.700 1.000 2 2012 2017
dbSNP: rs592423
rs592423 		6 6 139519556 intron variant A/C snv 0.50 0.700 1.000 2 2016 2017
dbSNP: rs6592965
rs6592965
IKZF1
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 2 2016 2018
dbSNP: rs6730558
rs6730558
LOC105373411
5 2 8616053 intron variant C/T snv 0.47 0.700 1.000 2 2016 2018
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 2 2016 2017
dbSNP: rs739385
rs739385 		4 7 93053295 regulatory region variant G/A;C snv 0.700 1.000 2 2016 2018
dbSNP: rs7776054
rs7776054
HBS1L
13 6 135097778 intron variant A/G snv 0.24 0.700 1.000 2 2016 2017
dbSNP: rs7843479
rs7843479
XPO7
1 8 21963302 intron variant C/A;T snv 0.700 1.000 2 2010 2017
dbSNP: rs901683
rs901683
MARCHF8 ; LOC105378286
2 10 45470974 intron variant G/A snv 6.3E-02 0.700 1.000 2 2012 2017