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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
dbSNP: rs863225264
rs863225264
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs1057519087
rs1057519087
4 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs115466046
rs115466046
2 1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs140646329
rs140646329
2 1 160042283 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs1476413
rs1476413
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs374073809
rs374073809
1 1 212961166 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 3.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs4846049
rs4846049
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs536289169
rs536289169
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs753303079
rs753303079
1 1 207325673 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs864309721
rs864309721
2 1.000 1 22086451 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs886041761
rs886041761
6 0.925 0.200 1 110603902 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs930549037
rs930549037
1 1 40301333 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs745756308
rs745756308
2 1.000 2 138013874 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2017
dbSNP: rs10194776
rs10194776
1 2 231115305 intron variant C/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1171889657
rs1171889657
1 2 26273656 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs16827801
rs16827801
1 2 231116063 intron variant A/C;G snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs199583537
rs199583537
1 2 169170596 missense variant C/T snv 2.5E-04 9.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs387906799
rs387906799
19 0.742 0.200 2 240788118 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs587777570
rs587777570
4 1.000 2 148947018 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs758252808
rs758252808
2 1.000 2 137970206 missense variant G/A snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs768560449
rs768560449
2 1.000 0.160 2 86166521 missense variant A/G snv 8.1E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs781442277
rs781442277
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017