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 0.882 17 1998 2020
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.929 14 2000 2010
dbSNP: rs1133763
rs1133763
4 0.882 0.200 17 34320812 missense variant A/C snv 0.21 0.15 0.010 1.000 1 2003 2003
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.040 1.000 4 2004 2019
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2005 2005
dbSNP: rs749041212
rs749041212
1 1.000 0.080 16 27363054 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs77010898
rs77010898
13 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.050 1.000 5 2007 2019
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 1.000 2 2007 2010
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs779916209
rs779916209
1 1.000 0.080 2 8802958 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.040 1.000 4 2008 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs12711521
rs12711521
7 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 0.020 1.000 2 2008 2011
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs200249435
rs200249435
5 0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 0.010 1.000 1 2008 2008
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
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 2008 2008
dbSNP: rs72550870
rs72550870
8 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs7566605
rs7566605
11 0.752 0.320 2 118078449 regulatory region variant C/G snv 0.70 0.010 < 0.001 1 2008 2008
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 2008 2008
dbSNP: rs80338880
rs80338880
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2008 2008