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: rs2229163
rs2229163
1 1.000 0.080 11 46385307 synonymous variant G/A snv 1.0E-02 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs150954431
rs150954431
2 1.000 0.080 12 124517777 intron variant C/T snv 1.6E-02 0.800 1.000 1 2014 2014
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2012 2012
dbSNP: rs6561333
rs6561333
1 1.000 0.080 13 46846177 intron variant T/C snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs16969968
rs16969968
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.020 1.000 2 2008 2010
dbSNP: rs684513
rs684513
5 0.925 0.080 15 78566058 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1437134
rs1437134
1 1.000 0.080 16 69696523 3 prime UTR variant A/G snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs2005290
rs2005290
2 1.000 0.080 17 3284718 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs4795541
rs4795541
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs5374
rs5374
1 1.000 0.080 18 77250689 synonymous variant T/C snv 0.57 0.57 0.010 1.000 1 2014 2014
dbSNP: rs2235749
rs2235749
7 0.790 0.200 20 1979293 3 prime UTR variant G/A snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2008 2008