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: rs2267717
rs2267717
1 1.000 0.040 7 30677427 intron variant G/A snv 0.17 0.010 < 0.001 1 2006 2006
dbSNP: rs2270463
rs2270463
1 1.000 0.040 3 8733391 intron variant G/T snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs2337980
rs2337980
2 0.925 0.120 15 32151995 intron variant C/T snv 0.45 0.010 1.000 1 2006 2006
dbSNP: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs2576573
rs2576573
2 0.925 0.120 8 56445416 3 prime UTR variant G/A snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs2609997
rs2609997
3 0.882 0.120 8 56447926 intron variant T/C snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2770378
rs2770378
1 1.000 0.040 20 3072868 downstream gene variant G/A snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2835731
rs2835731
2 1.000 0.040 21 37424426 intron variant C/G;T snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs362584
rs362584
1 1.000 0.040 20 10273827 intron variant G/A snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs3743078
rs3743078
7 0.807 0.160 15 78602417 intron variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3756242
rs3756242
1 1.000 0.040 4 15784379 intron variant C/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs555018
rs555018
1 1.000 0.040 15 78586900 intron variant G/A snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs578776
rs578776
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs601079
rs601079
1 1.000 0.040 15 78577237 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2012 2012
dbSNP: rs628604
rs628604
1 1.000 0.040 19 54028370 upstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2005 2005
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6495307
rs6495307
1 1.000 0.040 15 78597979 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs6832769
rs6832769
1 1.000 0.040 4 55432027 3 prime UTR variant G/A snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs709160
rs709160
1 1.000 0.040 3 12484903 intron variant G/C snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2005 2005
dbSNP: rs8015351
rs8015351
1 1.000 0.040 14 49421667 intergenic variant A/G;T snv 0.010 1.000 1 2015 2015