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: rs267607121
rs267607121
TMPRSS6
1 1.000 0.080 22 37098426 missense variant G/T snv 8.0E-06 0.800 1.000 12 2008 2015
dbSNP: rs387907018
rs387907018
TMPRSS6
1 1.000 0.080 22 37073550 missense variant C/T snv 1.6E-05 2.1E-05 0.800 1.000 12 2008 2015
dbSNP: rs770897887
rs770897887
TMPRSS6
1 1.000 0.080 22 37070584 missense variant A/G snv 4.0E-06 0.700 1.000 12 2008 2015
dbSNP: rs773272073
rs773272073
TMPRSS6
1 1.000 0.080 22 37070563 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 12 2008 2015
dbSNP: rs776069764
rs776069764
TMPRSS6
1 1.000 0.080 22 37066196 missense variant G/A snv 2.0E-05 4.2E-05 0.700 1.000 12 2008 2015
dbSNP: rs776180387
rs776180387
TMPRSS6
1 1.000 0.080 22 37089629 missense variant C/T snv 2.0E-05 4.9E-05 0.710 1.000 12 2008 2015
dbSNP: rs137852311
rs137852311
ALAS2
3 0.882 0.120 X 55014830 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918367
rs121918367
SLC11A2
5 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs769217
rs769217
CAT
12 0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22 0.010 1.000 1 2012 2012
dbSNP: rs376129674
rs376129674
HJV
1 1.000 0.080 1 146018204 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs139105452
rs139105452
TMPRSS6
1 1.000 0.080 22 37066133 missense variant C/T snv 8.0E-03 8.6E-03 0.010 1.000 1 2018 2018