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: rs1554154042
rs1554154042
HFE ; LOC108783645
1 1.000 0.080 6 26092828 frameshift variant A/- delins 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: 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: 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: 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: 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: 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: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2004 2004
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2010 2010
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: rs80338879
rs80338879
TFR2
3 0.882 0.080 7 100633515 missense variant A/T snv 8.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs777018511
rs777018511
HFE ; LOC108783645
2 0.925 0.080 6 26091451 frameshift variant C/- delins 1.2E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs773050231
rs773050231
TFR2
1 1.000 0.080 7 100628299 frameshift variant C/- delins 1.1E-04 0.700 0
dbSNP: rs74315323
rs74315323
HJV
4 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.720 1.000 2 2004 2005
dbSNP: rs772104483
rs772104483
TFR2
1 1.000 0.080 7 100628288 missense variant C/A snv 8.0E-06 0.700 0
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: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2001 2001
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2012 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 0.991 114 1996 2019
dbSNP: rs786204108
rs786204108
TFR2
1 1.000 0.080 7 100626866 missense variant C/G;T snv 1.3E-05 0.700 1.000 2 2013 2015
dbSNP: rs2111833
rs2111833
TMPRSS6
2 1.000 0.080 22 37084757 synonymous variant C/G;T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs779021719
rs779021719
HAMP
5 0.827 0.120 19 35284962 stop gained C/G;T snv 9.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2001 2001