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: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 7 2010 2019
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.800 1.000 5 2012 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 4 2009 2012
dbSNP: rs218237
rs218237 		6 4 54528005 intergenic variant C/T snv 0.18 0.800 1.000 4 2010 2019
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 4 2009 2013
dbSNP: rs9310736
rs9310736
THRB
4 3 24309320 intron variant A/G snv 0.69 0.800 1.000 4 2010 2017
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.800 1.000 4 2009 2018
dbSNP: rs12718598
rs12718598
IKZF1
3 7 50360747 intron variant T/C snv 0.50 0.700 1.000 3 2012 2017
dbSNP: rs2236496
rs2236496
RCL1
5 9 4844265 intron variant T/C snv 0.19 0.800 1.000 3 2010 2013
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 3 2010 2013
dbSNP: rs737092
rs737092 		7 20 57415349 regulatory region variant T/C snv 0.58 0.700 1.000 3 2012 2018
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 3 2009 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: rs10758658
rs10758658
RCL1
4 9 4856877 intron variant G/A snv 0.15 0.800 1.000 2 2009 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: rs172629
rs172629 		2 4 54541595 intergenic variant C/G snv 0.17 0.800 1.000 2 2009 2010
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: rs2413450
rs2413450
TMPRSS6
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 2 2009 2017