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: rs786205058
rs786205058
TMPRSS6
1 1.000 0.080 22 37073531 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs786205059
rs786205059
TMPRSS6
1 1.000 0.080 22 37069072 splice donor variant C/G snv 0.700 0
dbSNP: rs786205060
rs786205060
TMPRSS6
1 1.000 0.080 22 37069154 frameshift variant -/GGGG delins 0.700 0
dbSNP: rs869320724
rs869320724
TMPRSS6
1 1.000 0.080 22 37069307 frameshift variant -/GC delins 8.2E-06 0.700 0
dbSNP: rs121918365
rs121918365
SLC11A2
3 0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366
SLC11A2
5 0.827 0.160 12 50992291 missense variant G/A;C snv 0.010 1.000 1 2006 2006
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: rs137852311
rs137852311
ALAS2
3 0.882 0.120 X 55014830 missense variant G/A;T snv 0.010 1.000 1 2008 2008
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
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: 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