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: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.842 38 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.833 36 2004 2019
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.900 0.964 28 2008 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 16 1997 2017
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.900 0.933 15 2008 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.100 0.867 15 2011 2020
dbSNP: rs9834970
rs9834970
9 0.790 0.080 3 36814539 downstream gene variant T/C snv 0.45 0.810 1.000 10 2010 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2006 2014
dbSNP: rs12576775
rs12576775
6 0.827 0.080 11 79366149 intron variant A/G snv 0.15 0.820 1.000 7 2011 2018
dbSNP: rs9804190
rs9804190
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.070 0.857 7 2009 2018
dbSNP: rs1938526
rs1938526
3 0.882 0.040 10 60540625 intron variant A/G snv 8.3E-02 0.840 1.000 6 2011 2017
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.060 1.000 6 2006 2019
dbSNP: rs9371601
rs9371601
8 0.790 0.120 6 152469438 intron variant G/T snv 0.46 0.820 1.000 6 2011 2019
dbSNP: rs1064395
rs1064395
3 0.882 0.120 19 19250926 3 prime UTR variant G/A snv 0.24 0.850 1.000 5 2011 2015
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 1.000 5 2003 2014
dbSNP: rs4765913
rs4765913
1 1.000 0.040 12 2310730 intron variant A/T snv 0.82 0.810 1.000 4 2011 2017
dbSNP: rs10994359
rs10994359
7 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.810 1.000 3 2013 2014
dbSNP: rs10994397
rs10994397
5 0.851 0.040 10 60519366 intron variant C/T snv 9.5E-02 0.800 1.000 3 2011 2014
dbSNP: rs1534891
rs1534891
5 0.827 0.200 22 38299094 intron variant T/C snv 0.90 0.030 1.000 3 2008 2018
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.720 1.000 3 2012 2013
dbSNP: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.720 1.000 3 2012 2013
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.030 1.000 3 2014 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2007 2008
dbSNP: rs420259
rs420259
2 0.925 0.040 16 23622705 intron variant A/C;G snv 0.810 1.000 3 2007 2011