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: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.030 1.000 3 2014 2017
dbSNP: rs3731217
rs3731217
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.030 1.000 3 2010 2018
dbSNP: rs3731249
rs3731249
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 1.000 3 2015 2018
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.030 1.000 3 2016 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.020 1.000 2 2009 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2013 2016
dbSNP: rs1057519866
rs1057519866
5 0.851 0.120 10 103093198 missense variant C/T snv 0.020 1.000 2 2016 2018
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs11545078
rs11545078
GGH
6 0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02 0.020 1.000 2 2012 2015
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.020 1.000 2 2015 2016
dbSNP: rs11978267
rs11978267
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.020 1.000 2 2017 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2005 2006
dbSNP: rs1800460
rs1800460
7 0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02 0.020 1.000 2 2009 2011
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2012 2012
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.020 1.000 2 2013 2017
dbSNP: rs7088318
rs7088318
4 0.851 0.120 10 22564019 intron variant C/A snv 0.55 0.020 1.000 2 2013 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 1999 2018
dbSNP: rs924607
rs924607
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs10106
rs10106
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10235796
rs10235796
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs10272724
rs10272724
4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs104893636
rs104893636
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10519612
rs10519612
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015