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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.974 230 1997 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.961 77 1997 2019
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.100 0.923 13 1998 2017
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 0.800 10 1999 2011
dbSNP: rs199474387
rs199474387
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.030 1.000 3 1998 2002
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.030 1.000 3 2001 2003
dbSNP: rs780246573
rs780246573
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.030 1.000 3 2001 2003
dbSNP: rs80338880
rs80338880
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.030 1.000 3 2001 2003
dbSNP: rs11558492
rs11558492
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 0.500 2 2017 2017
dbSNP: rs104893662
rs104893662
4 0.851 0.080 2 189571799 missense variant T/A;G snv 0.010 1.000 1 2003 2003
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: rs11568350
rs11568350
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
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: rs1208663703
rs1208663703
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121434375
rs121434375
HJV
4 0.851 0.080 1 146019672 stop gained T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs137853920
rs137853920
2 0.925 0.080 9 117712970 missense variant G/A snv 2.3E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1402522059
rs1402522059
CAT
1 1.000 0.080 11 34449312 missense variant C/G;T snv 4.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs1424266770
rs1424266770
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1449300685
rs1449300685
2 0.925 0.080 2 189565581 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs146519482
rs146519482
2 0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04 0.010 1.000 1 2002 2002
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1830084
rs1830084
4 0.882 0.160 3 133789620 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs199916850
rs199916850
2 0.925 0.080 6 26091521 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2008 2008