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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.080 0.875 8 2007 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2011 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2011 2018
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2001 2003
dbSNP: rs10779646
rs10779646
1 1 215152892 intron variant G/A snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs1198588
rs1198588
2 1.000 0.040 1 98087276 intergenic variant A/T snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 < 0.001 1 2008 2008
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2019 2019
dbSNP: rs2455391
rs2455391
2 1.000 0.040 5 1443383 intron variant G/A snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2958182
rs2958182
5 0.882 0.040 18 55481790 intron variant A/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs4704559
rs4704559
4 0.925 0.080 5 79517086 upstream gene variant A/G snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs4713916
rs4713916
11 0.790 0.160 6 35702206 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6584400
rs6584400
6 0.851 0.120 10 81896770 intron variant G/A snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs74315457
rs74315457
6 0.851 0.160 22 50626976 missense variant A/C snv 2.3E-04 2.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs7549184
rs7549184
1 1 215239563 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs806371
rs806371
4 0.882 0.040 6 88146644 intron variant T/G snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2013 2013