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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.935 46 2001 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.943 35 2001 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.667 6 2003 2019
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.050 0.800 5 2007 2015
dbSNP: rs4132601
rs4132601
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.050 1.000 5 2014 2019
dbSNP: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.030 0.667 3 2014 2019
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.030 1.000 3 2010 2015
dbSNP: rs1142345
rs1142345
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.030 1.000 3 2008 2013
dbSNP: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.030 1.000 3 2009 2012
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2008 2016
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2002 2013
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.030 1.000 3 2013 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2008 2019
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