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: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2013 2013
dbSNP: rs2299682
rs2299682
3 0.882 0.040 20 9448697 intron variant A/G snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs75062117
rs75062117
3 0.882 0.040 12 90883555 intron variant G/A snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs76082815
rs76082815
3 0.882 0.040 13 75821206 missense variant C/T snv 1.7E-02 7.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs981975
rs981975
2 0.925 0.040 14 72119843 intron variant A/G snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs12052005
rs12052005
3 0.882 0.040 18 68832311 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7766730
rs7766730
3 0.882 0.040 6 65987110 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs9354352
rs9354352
3 0.882 0.040 6 65986379 intergenic variant T/C snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs2067477
rs2067477
3 0.882 0.080 11 62910834 synonymous variant G/T snv 0.11 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs34486957
rs34486957
3 0.882 0.040 14 59578879 upstream gene variant C/T snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs2997119
rs2997119
3 0.882 0.040 13 55819766 intergenic variant A/G snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs10137071
rs10137071
2 0.925 0.040 14 54903622 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs74796725
rs74796725
3 0.882 0.040 12 53187599 3 prime UTR variant G/T snv 1.2E-02 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs2710323
rs2710323
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2013 2013
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2004 2010
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs11125080
rs11125080
3 0.882 0.040 2 46505266 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs138110
rs138110
2 0.925 0.040 22 43863901 upstream gene variant A/G snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs6558872
rs6558872
3 0.882 0.040 8 4380617 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs138449918
rs138449918
3 0.882 0.040 2 39936810 intron variant AT/-;ATAT delins 0.700 1.000 1 2017 2017
dbSNP: rs74417947
rs74417947
3 0.882 0.040 20 37181711 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs142754383
rs142754383
3 0.882 0.040 12 30661250 missense variant T/C snv 3.0E-04 9.1E-04 0.700 1.000 1 2017 2017
dbSNP: rs679895
rs679895
3 0.882 0.040 5 29091578 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs57646126
rs57646126
3 0.882 0.040 21 28959613 missense variant G/A snv 5.7E-02 2.2E-02 0.700 1.000 1 2017 2017