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: rs1800574
rs1800574
6 0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02 0.850 0.857 7 2004 2018
dbSNP: rs137853240
rs137853240
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.800 0.917 12 2000 2011
dbSNP: rs12427353
rs12427353
2 1.000 0.080 12 120989098 intron variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.780 1.000 9 2006 2018
dbSNP: rs1169299
rs1169299
4 1.000 0.080 12 120991391 intron variant T/C snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs137853236
rs137853236
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1555212014
rs1555212014
6 0.807 0.280 12 120994264 missense variant C/T snv 0.700 0
dbSNP: rs754729248
rs754729248
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs2464196
rs2464196
17 0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27 0.050 1.000 5 1998 2016
dbSNP: rs1057520504
rs1057520504
4 0.882 0.080 12 120994238 missense variant G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1060499866
rs1060499866
2 0.925 0.080 12 120993532 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1183910
rs1183910
5 1.000 0.080 12 120983004 intron variant G/A snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1316999782
rs1316999782
1 1.000 0.080 12 121001151 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1320041799
rs1320041799
1 1.000 0.080 12 120978994 missense variant G/A snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs137853238
rs137853238
6 0.807 0.200 12 120994265 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs137853243
rs137853243
3 0.882 0.080 12 120988841 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs2259820
rs2259820
6 0.882 0.160 12 120997539 synonymous variant C/T snv 0.34 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2393791
rs2393791
8 0.925 0.160 12 120986153 intron variant C/T snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs372624970
rs372624970
1 1.000 0.080 12 120999376 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs376044120
rs376044120
1 1.000 0.080 12 120996659 missense variant C/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs483353044
rs483353044
4 0.882 0.080 12 120999288 missense variant G/A;C snv 4.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs7310409
rs7310409
7 0.925 0.160 12 120987058 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014