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: rs6564851
rs6564851 		5 0.882 0.120 16 81230992 intergenic variant T/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs492602
rs492602
FUT2 ; LOC105447645
7 0.925 0.120 19 48703160 synonymous variant A/G snv 0.38 0.45 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: 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: rs34242818
rs34242818
TFR2
2 0.925 0.080 7 100633241 missense variant G/C snv 1.8E-02 4.0E-02 0.010 1.000 1 2005 2005
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: rs11568350
rs11568350
SLC40A1
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.760 0.857 7 1999 2012
dbSNP: rs41303501
rs41303501
TFR2
3 0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs149342416
rs149342416
HFE ; LOC108783645
1 1.000 0.080 6 26087458 missense variant G/C snv 6.9E-04 7.0E-04 0.700 1.000 18 1996 2008
dbSNP: rs56073403
rs56073403
AGT
3 0.882 0.160 1 230710009 missense variant T/C snv 7.2E-04 6.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.700 1.000 18 1996 2008
dbSNP: rs80338891
rs80338891
TFR2
4 0.851 0.080 7 100620889 missense variant C/T snv 4.8E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs747739169
rs747739169
HFE ; LOC108783645
1 1.000 0.080 6 26090960 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs199916850
rs199916850
HFE ; LOC108783645
2 0.925 0.080 6 26091521 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs80338882
rs80338882
TFR2
4 0.851 0.080 7 100630973 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
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: 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: rs28934596
rs28934596
HFE ; LOC108783645
1 1.000 0.080 6 26091078 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 18 1996 2008