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: rs1048230
rs1048230
SLC11A2
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 < 0.001 1 2000 2000
dbSNP: rs1051249273
rs1051249273
TFR2
1 1.000 0.080 7 100626885 stop gained G/A;T snv 4.8E-05 0.700 0
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.020 1.000 2 2012 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: rs1168921011
rs1168921011
MYBPH
1 1.000 0.080 1 203171152 missense variant C/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs121434374
rs121434374
HJV
4 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1220336558
rs1220336558
TFR2
1 1.000 0.080 7 100627389 stop gained G/A snv 5.9E-06 0.700 0
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.080 1.000 8 1997 2013
dbSNP: rs1374259518
rs1374259518
HAMP
3 0.882 0.080 19 35284995 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs137852310
rs137852310
ALAS2
3 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs1397742363
rs1397742363
MAP3K8
1 1.000 0.080 10 30451716 missense variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs140080192
rs140080192
HFE ; LOC108783645
1 1.000 0.080 6 26092897 missense variant G/A;C snv 3.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs1426704853
rs1426704853
TFR2
1 1.000 0.080 7 100641009 frameshift variant G/- delins 0.700 0
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
5 0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04 0.020 1.000 2 2002 2012
dbSNP: rs143496559
rs143496559
HJV
2 0.925 0.080 1 146018454 missense variant C/T snv 2.9E-04 5.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1554154042
rs1554154042
HFE ; LOC108783645
1 1.000 0.080 6 26092828 frameshift variant A/- delins 0.700 0
dbSNP: rs1562838535
rs1562838535
TFR2
1 1.000 0.080 7 100627598 frameshift variant G/- delins 0.700 0
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 0.991 114 1996 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 0.973 260 1997 2019
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 0.947 19 1999 2019
dbSNP: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.020 1.000 2 1998 2002