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: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2012 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2017 2019
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.020 1.000 2 2008 2011
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2017 2019
dbSNP: rs1187352
rs1187352
3 0.925 0.040 9 84678542 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12729558
rs12729558
1 1.000 0.040 1 88937277 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs17710780
rs17710780
1 1.000 0.040 5 149657413 regulatory region variant T/C snv 9.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2001 2001
dbSNP: rs1928040
rs1928040
1 1.000 0.040 13 46873101 intron variant G/A snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2003 2003
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2014 2014
dbSNP: rs747762300
rs747762300
1 1.000 0.040 5 132074826 missense variant A/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2010 2010