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: 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: rs4820268
rs4820268
TMPRSS6
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 2 2009 2012
dbSNP: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.800 1.000 2 2009 2012
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: rs632057
rs632057 		5 6 139512875 intron variant T/G snv 0.57 0.800 1.000 2 2010 2012
dbSNP: rs643381
rs643381 		4 6 139518286 intron variant C/A;G snv 0.800 1.000 2 2009 2017
dbSNP: rs6569992
rs6569992 		4 6 135131014 intergenic variant G/A;C;T snv 0.800 1.000 2 2010 2012
dbSNP: rs6592965
rs6592965
IKZF1
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 2 2016 2018
dbSNP: rs668459
rs668459 		5 6 139514552 intron variant C/T snv 0.51 0.800 1.000 2 2012 2013
dbSNP: rs6730558
rs6730558
LOC105373411
5 2 8616053 intron variant C/T snv 0.47 0.700 1.000 2 2016 2018
dbSNP: rs7203560
rs7203560
NPRL3
7 1.000 0.080 16 134391 intron variant T/G snv 2.0E-02 0.800 1.000 2 2013 2017
dbSNP: rs7255045
rs7255045
HOOK2
2 19 12821455 intron variant G/A snv 0.37 0.800 1.000 2 2009 2017
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
dbSNP: rs9374080
rs9374080
CCDC162P
2 6 109295217 intron variant T/C snv 0.40 0.800 1.000 2 2009 2017
dbSNP: rs9402686
rs9402686
LOC105378010
5 6 135106679 upstream gene variant G/A snv 0.20 0.700 1.000 2 2009 2019
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.800 1.000 2 2010 2012
dbSNP: rs9821630
rs9821630
PLCL2
2 3 16929446 intron variant A/G snv 0.24 0.700 1.000 2 2016 2017