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: 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: 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: rs779021719
rs779021719
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
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
dbSNP: rs80338880
rs80338880
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs80338881
rs80338881
2 0.925 0.080 7 100632099 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1051249273
rs1051249273
1 1.000 0.080 7 100626885 stop gained G/A;T snv 4.8E-05 0.700 0
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: rs1220336558
rs1220336558
1 1.000 0.080 7 100627389 stop gained G/A snv 5.9E-06 0.700 0
dbSNP: rs749553271
rs749553271
1 1.000 0.080 6 26092960 stop gained G/T snv 2.1E-05 0.700 0
dbSNP: rs1800562
rs1800562
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
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
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
23 0.672 0.360 6 29944350 missense variant G/A snv 0.080 1.000 8 1997 2013
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.020 1.000 2 2012 2014
dbSNP: rs1208663703
rs1208663703
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: rs143175221
rs143175221
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
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.020 1.000 2 1998 2002
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2012 2013
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: rs786204108
rs786204108
1 1.000 0.080 7 100626866 missense variant C/G;T snv 1.3E-05 0.700 1.000 2 2013 2015
dbSNP: rs855791
rs855791
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: rs111033563
rs111033563
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
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
1 1.000 0.080 1 203171152 missense variant C/A;T snv 0.010 1.000 1 1997 1997