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: 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: rs1168921011
rs1168921011
MYBPH
1 1.000 0.080 1 203171152 missense variant C/A;T snv 0.010 1.000 1 1997 1997
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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs763569821
rs763569821
MUC1
4 0.851 0.160 1 155188197 missense variant T/C snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs781959255
rs781959255
HJV
2 0.925 0.080 1 146019321 missense variant C/T snv 8.1E-06 0.010 1.000 1 2011 2011
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: rs387907377
rs387907377
SLC40A1
3 0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.710 1.000 1 2015 2015
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: 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: 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: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.080 1.000 8 1997 2013
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: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.020 1.000 2 1998 2002
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: 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: 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: rs202068193
rs202068193
HFE ; LOC108783645
1 1.000 0.080 6 26092834 missense variant G/A snv 5.6E-05 1.4E-05 0.010 < 0.001 1 2010 2010
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: 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: rs765545512
rs765545512
HFE
6 0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs773624350
rs773624350
HFE ; LOC108783645
1 1.000 0.080 6 26092887 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
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