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 0.100 1.000 11 1998 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2003 2019
dbSNP: rs1303530299
rs1303530299
CACNA2D3
1 1.000 0.040 3 54642201 missense variant A/G snv 4.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs104894347
rs104894347
FGF23
3 0.925 0.200 12 4370572 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.010 < 0.001 1 2012 2012
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.010 < 0.001 1 2012 2012
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.010 1.000 1 2014 2014