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 0.870 23 2004 2018
dbSNP: rs4072037
rs4072037
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.100 1.000 16 2011 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.818 11 2005 2014
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.050 0.800 5 2009 2014
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.040 1.000 4 2011 2019
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 1.000 3 2011 2019
dbSNP: rs2070803
rs2070803
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.030 1.000 3 2011 2017
dbSNP: rs5744174
rs5744174
13 0.742 0.360 1 223111186 missense variant A/G snv 0.39 0.34 0.030 1.000 3 2011 2019
dbSNP: rs1380576
rs1380576
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.020 1.000 2 2015 2017
dbSNP: rs145204276
rs145204276
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2018 2018
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2018
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2011 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2014 2019
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 2014 2016
dbSNP: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.020 1.000 2 2013 2019
dbSNP: rs4460629
rs4460629
4 0.882 0.080 1 155162859 intergenic variant T/C snv 0.56 0.020 1.000 2 2012 2012
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.020 1.000 2 2012 2013
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 1.000 2 2011 2016
dbSNP: rs7536272
rs7536272
2 0.925 0.080 1 46177421 intron variant A/G snv 0.22 0.020 1.000 2 2018 2019
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2006 2006
dbSNP: rs1064261
rs1064261
3 0.925 0.080 1 11228701 missense variant G/A;T snv 0.75; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10746463
rs10746463
4 0.851 0.200 1 207337251 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs111238176
rs111238176
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2015 2015