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: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2001 2020
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: 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: 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: 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: rs1559085
rs1559085
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs1879553
rs1879553
2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs27852
rs27852
1 1.000 0.040 5 96710335 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs356182
rs356182
3 0.882 0.080 4 89704960 intron variant G/A snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs3827336
rs3827336
1 1.000 0.040 22 32625012 intron variant C/G snv 9.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2016 2016
dbSNP: rs5998557
rs5998557
1 1.000 0.040 22 32611052 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs66737902
rs66737902
2 0.925 0.040 12 40367861 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs6692804
rs6692804
1 1.000 0.040 1 109566120 intron variant G/A snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs6783485
rs6783485
2 0.925 0.040 3 59442071 intron variant G/A snv 5.1E-02 0.010 1.000 1 2016 2016