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 2018
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.800 1.000 5 2009 2013
dbSNP: rs1408272
rs1408272
SLC17A3
4 6 25842723 intron variant T/G snv 4.0E-02 0.800 1.000 4 2009 2017
dbSNP: rs218237
rs218237 		6 4 54528005 intergenic variant C/T snv 0.18 0.800 1.000 4 2010 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 3 2016 2019
dbSNP: rs1434282
rs1434282
LINC01221
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 3 2016 2019
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 3 2010 2013
dbSNP: rs2413450
rs2413450
TMPRSS6
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2009 2017
dbSNP: rs628751
rs628751 		3 6 139517282 intron variant C/A snv 0.41 0.800 1.000 3 2009 2019
dbSNP: rs6592965
rs6592965
IKZF1
4 7 50360284 intron variant G/A snv 0.47 0.700 1.000 3 2016 2019
dbSNP: rs7776054
rs7776054
HBS1L
13 6 135097778 intron variant A/G snv 0.24 0.800 1.000 3 2009 2018
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.800 1.000 3 2009 2018
dbSNP: rs10160596
rs10160596
EHBP1L1
3 11 65583893 non coding transcript exon variant G/A snv 0.20 0.700 1.000 2 2016 2019
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: rs10758656
rs10758656
RCL1
7 9 4852599 intron variant A/G snv 0.19 0.700 1.000 2 2017 2019
dbSNP: rs10758658
rs10758658
RCL1
4 9 4856877 intron variant G/A snv 0.15 0.800 1.000 2 2009 2017
dbSNP: rs10849023
rs10849023 		4 12 4223312 intergenic variant C/T snv 0.22 0.700 1.000 2 2012 2017
dbSNP: rs10923397
rs10923397 		2 1 117708521 regulatory region variant C/T snv 0.14 0.700 1.000 2 2016 2019
dbSNP: rs11085824
rs11085824
GCDH
4 19 12890733 upstream gene variant A/G snv 0.31 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 2019
dbSNP: rs1122794
rs1122794
FAM234A
2 16 259156 intron variant C/A snv 0.19 0.800 1.000 2 2009 2017
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 2019
dbSNP: rs113809617
rs113809617
NDOR1 ; TMEM203
5 9 137205865 missense variant C/G snv 0.13 0.12 0.700 1.000 2 2016 2019
dbSNP: rs11627485
rs11627485
FNTB ; MAX ; CHURC1-FNTB
5 14 65020976 intron variant T/C snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs116908763
rs116908763
CTDSPL2
1 15 44427813 5 prime UTR variant C/T snv 2.3E-02 0.700 1.000 2 2016 2019