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: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.968 31 2005 2019
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.090 1.000 9 2007 2019
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.060 0.833 6 2006 2013
dbSNP: rs5030732
rs5030732
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.060 0.833 6 2001 2011
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2001 2020
dbSNP: rs33949390
rs33949390
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.030 1.000 3 2008 2015
dbSNP: rs142444896
rs142444896
6 0.807 0.120 7 56106409 missense variant G/A snv 9.3E-03 7.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2015 2016
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.020 0.500 2 2013 2014
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.020 1.000 2 2013 2017
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2010 2010
dbSNP: rs10746953
rs10746953
2 0.925 0.040 9 74302924 regulatory region variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs10788972
rs10788972
2 0.925 0.040 1 54106570 intron variant C/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs11186
rs11186
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2018 2018
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12046178
rs12046178
1 1.000 0.040 1 54106502 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121917767
rs121917767
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs13153459
rs13153459
2 0.925 0.040 5 44515833 intron variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1320254777
rs1320254777
1 1.000 0.040 14 54902565 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1362858
rs1362858
2 0.925 0.040 18 35406636 upstream gene variant C/A snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1366901063
rs1366901063
2 0.925 0.040 11 123060725 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141366047
rs141366047
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2005 2005