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: rs4537731
rs4537731
3 1.000 0.040 11 18047335 upstream gene variant T/C snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs4675690
rs4675690
3 2 207643083 intergenic variant C/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 1.000 10 2005 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 10 2005 2018
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2008 2018
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs12701020
rs12701020
3 0.925 0.040 7 30655345 intron variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs4722999
rs4722999
5 0.851 0.080 7 30654159 intron variant C/T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1800498
rs1800498
4 0.882 0.080 11 113420866 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs56372821
rs56372821
2 1.000 0.080 8 27578983 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.030 1.000 3 2010 2019
dbSNP: rs10947563
rs10947563
3 0.925 0.040 6 35685660 intron variant G/A snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.020 1.000 2 2011 2018
dbSNP: rs3798347
rs3798347
3 0.925 0.040 6 35633999 intron variant A/T snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs279826
rs279826
4 1.000 0.080 4 46332192 intron variant A/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 < 0.001 1 2014 2014