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: rs5370
rs5370
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2018 2018
dbSNP: rs611419
rs611419
1 1.000 0.120 8 101491489 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2012 2012
dbSNP: rs6989650
rs6989650
1 1.000 0.120 8 101669109 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs702553
rs702553
6 0.882 0.160 5 60440946 intron variant A/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs7493
rs7493
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2012 2012
dbSNP: rs7522061
rs7522061
4 0.882 0.320 1 157698600 missense variant T/C;G snv 0.45 0.51 0.010 1.000 1 2015 2015
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs779829591
rs779829591
F3
5 0.827 0.320 1 94532395 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2013 2013