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: rs605059
rs605059
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs62113214
rs62113214
2 0.925 0.080 19 50859281 intron variant T/G snv 4.9E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs689465
rs689465
7 0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 0.010 < 0.001 1 2014 2014
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2010 2010
dbSNP: rs6968704
rs6968704
4 0.882 0.120 7 27927365 intron variant C/T snv 0.35 0.010 < 0.001 1 2010 2010
dbSNP: rs749406013
rs749406013
2 0.925 0.080 12 68809257 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs768623239
rs768623239
26 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs8018687
rs8018687
2 0.925 0.080 14 64227364 3 prime UTR variant T/C snv 0.17 0.010 < 0.001 1 2009 2009
dbSNP: rs80357382
rs80357382
11 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs822391
rs822391
4 0.925 0.080 3 186846014 intron variant C/T snv 0.85 0.010 < 0.001 1 2011 2011
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs849136
rs849136
4 0.851 0.240 7 28135338 intron variant A/G snv 0.74 0.010 < 0.001 1 2010 2010
dbSNP: rs849140
rs849140
7 0.851 0.240 7 28144083 intron variant T/C snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs849141
rs849141
6 0.851 0.240 7 28145472 intron variant A/G snv 0.78 0.010 < 0.001 1 2010 2010
dbSNP: rs849142
rs849142
6 0.807 0.240 7 28146272 intron variant T/C snv 0.39 0.010 < 0.001 1 2010 2010
dbSNP: rs864745
rs864745
12 0.763 0.320 7 28140937 intron variant T/C snv 0.41 0.010 < 0.001 1 2010 2010
dbSNP: rs920778
rs920778
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 < 0.001 1 2018 2018
dbSNP: rs928554
rs928554
6 0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66 0.010 < 0.001 1 2009 2009
dbSNP: rs9915936
rs9915936
5 0.827 0.120 17 65537671 synonymous variant T/C snv 0.90 0.90 0.010 < 0.001 1 2011 2011
dbSNP: rs2278008
rs2278008
4 0.851 0.160 5 33989413 missense variant C/T snv 0.70 0.74 0.030 0.333 3 2007 2015
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.030 0.333 3 2017 2018
dbSNP: rs149709822
rs149709822
4 0.882 0.080 19 50856335 missense variant G/A snv 4.0E-05 2.3E-04 0.040 0.500 4 2001 2008
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.040 0.500 4 2007 2014
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.040 0.500 4 2009 2015
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.020 0.500 2 2003 2014