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: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.030 1.000 3 2013 2019
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
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 1996 1996
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 1999 1999
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 < 0.001 1 2010 2010
dbSNP: rs8007267
rs8007267
6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs841
rs841
8 0.827 0.200 14 54843774 splice region variant G/A snv 0.22 0.22 0.010 1.000 1 2012 2012
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.020 1.000 2 2011 2017
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.020 1.000 2 2012 2012
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs41279104
rs41279104
6 0.827 0.160 12 117439680 intron variant C/T snv 0.11 0.010 < 0.001 1 2010 2010
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs7597593
rs7597593
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs908867
rs908867
7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.040 1.000 4 2012 2014
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs199505
rs199505
4 0.925 0.120 17 46782044 intron variant A/G snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs1997679
rs1997679
6 0.882 0.120 6 15658674 intron variant G/A snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs2251219
rs2251219
14 0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34 0.810 1.000 1 2010 2010
dbSNP: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.010 1.000 1 2000 2000
dbSNP: rs3771829
rs3771829
9 0.790 0.120 2 75137019 intron variant C/G snv 0.11 0.010 1.000 1 2014 2014