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: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.020 1.000 2 2014 2018
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs13385731
rs13385731
3 0.882 0.200 2 33476823 intron variant T/C snv 6.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17857295
rs17857295
1 1.000 0.080 20 3857794 stop gained C/A;G;T snv 1.6E-05; 0.29; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2326369
rs2326369
2 0.925 0.160 20 3862337 synonymous variant C/T snv 9.2E-02 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs4917014
rs4917014
8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs3819025
rs3819025
11 0.752 0.480 6 52186476 intron variant G/A snv 0.13 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2670660
rs2670660
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs3758391
rs3758391
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2014 2014