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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.900 0.976 248 1996 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.960 99 1996 2019
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.020 1.000 2 2014 2019
dbSNP: rs1830084
rs1830084
TF ; SRPRB ; LOC105374116
4 0.882 0.160 3 133789620 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2280673
rs2280673
RAB6B
3 0.882 0.160 3 133839310 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9357271
rs9357271
BTBD9
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1449300685
rs1449300685
SLC40A1
2 0.925 0.080 2 189565581 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.090 0.889 9 2001 2017
dbSNP: rs11558492
rs11558492
GNPAT
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 0.500 2 2017 2017
dbSNP: rs1167115018
rs1167115018
HFE ; LOC108783645
5 0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs884409
rs884409
CYBRD1
2 0.925 0.080 2 171522147 upstream gene variant T/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2015 2015
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.700 1.000 1 2015 2015
dbSNP: rs537002912
rs537002912
HFE
2 0.925 0.080 6 26093145 missense variant A/G snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1424266770
rs1424266770
CASP3
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3817672
rs3817672
TFRC
4 0.882 0.240 3 196073940 missense variant C/T snv 0.45 0.43 0.010 1.000 1 2014 2014
dbSNP: rs422982
rs422982
SLC11A2
2 0.925 0.200 12 51012571 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs733655
rs733655
TMPRSS6
6 0.827 0.240 22 37099011 intron variant T/C snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs781516027
rs781516027
HFE ; LOC108783645
3 0.882 0.080 6 26092744 missense variant C/G;T snv 8.0E-06; 3.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs4820268
rs4820268
TMPRSS6
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.010 1.000 1 2013 2013