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: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.800 1.000 4 2009 2018
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 3 2010 2013
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: 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: 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: 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: rs739385
rs739385 		4 7 93053295 regulatory region variant G/A;C snv 0.700 1.000 2 2016 2018
dbSNP: rs7843479
rs7843479
XPO7
1 8 21963302 intron variant C/A;T snv 0.700 1.000 2 2010 2017
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.800 1.000 2 2010 2012
dbSNP: rs9859260
rs9859260
TFRC
2 3 196073676 intron variant C/A;T snv 0.800 1.000 2 2009 2017
dbSNP: rs9924561
rs9924561
FAM234A
3 16 264781 intron variant G/A;T snv 2.9E-05; 6.5E-03 0.700 1.000 2 2013 2017
dbSNP: rs10751450
rs10751450
ATP2B4
2 1 203681817 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10783487
rs10783487
ATG101
2 12 52068035 upstream gene variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11107
rs11107
FBXO7
2 1.000 0.040 22 32479203 start lost G/A;C snv 0.45; 8.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs11153147
rs11153147
ARMC2
1 6 108982855 downstream gene variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11160753
rs11160753 		1 14 103541163 downstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112390170
rs112390170 		1 6 31267969 downstream gene variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs113107529
rs113107529
PSMB5
1 14 23028147 intron variant CAAA/-;CAAACAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11338281
rs11338281
SLC2A9
1 4 9959218 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs113700287
rs113700287
THRB
4 3 24293020 intron variant -/GTT delins 0.700 1.000 1 2016 2016