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: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs10509125
rs10509125
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs9804190
rs9804190
5 0.882 0.040 10 60080073 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs5177
rs5177
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C 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 2006 2006
dbSNP: rs137853208
rs137853208
3 0.925 0.080 7 50504025 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1800014
rs1800014
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2016 2016
dbSNP: rs279827
rs279827
2 4 46332685 splice region variant A/G;T snv 0.44 0.41 0.010 1.000 1 2016 2016
dbSNP: rs279826
rs279826
4 1.000 0.080 4 46332192 intron variant A/G snv 0.46 0.010 1.000 1 2016 2016
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2016 2016
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2016 2019
dbSNP: rs63751438
rs63751438
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2011 2016
dbSNP: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs9983925
rs9983925
4 21 45216929 intron variant C/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs2049161
rs2049161
2 18 4127583 intron variant A/C;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2014 2014
dbSNP: rs1569355102
rs1569355102
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs104894127
rs104894127
4 0.925 0.080 9 35685750 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2012 2017
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.010 1.000 1 2017 2017