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: rs121913503
rs121913503
17 0.724 0.179 15 90088606 missense variant C/A,T snp 0.710 1.000 3 2009 2016
dbSNP: rs28933368
rs28933368
7 0.801 0.071 17 39725721 missense variant G/A snp 0.700 1 2004 2004
dbSNP: rs121913500
rs121913500
42 0.615 0.464 2 208248388 missense variant C/A,G,T snp 4.0E-06 0.050 1.000 5 2013 2015
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.020 1.000 2 2013 2013
dbSNP: rs118101777
rs118101777
15 0.715 0.214 15 90087472 missense variant C/T snp 2.0E-03 2.0E-03 0.020 1.000 2 2015 2015
dbSNP: rs1035938
rs1035938
4 0.846 0.071 19 47680514 synonymous variant C/G,T snp 0.29 0.31 0.010 1.000 1 2005 2005
dbSNP: rs1052555
rs1052555
2 0.923 0.036 19 45352266 synonymous variant G/A snp 0.28 0.26 0.010 1.000 1 2005 2005
dbSNP: rs11133391
rs11133391
3 0.878 0.036 4 55501788 intron variant T/C snp 0.33 0.010 1.000 1 2014 2014
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs11672232
rs11672232
2 0.923 0.036 19 10995924 missense variant C/T snp 0.31 0.32 0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780
2 0.923 0.036 19 11021404 non coding transcript exon variant G/A snp 0.24 0.010 1.000 1 2013 2013
dbSNP: rs2296212
rs2296212
3 0.878 0.071 9 2191309 missense variant C/G snp 0.17 0.17 0.010 1.000 1 2013 2013
dbSNP: rs4741651
rs4741651
2 0.923 0.036 9 2194030 intergenic variant C/T snp 0.23 0.010 1.000 1 2013 2013
dbSNP: rs483352909
rs483352909
10 0.769 0.143 12 132673664 stop gained G/A,C snp 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs55819519
rs55819519
18 0.692 0.214 17 7673751 missense variant C/T snp 1.6E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs587777627
rs587777627
6 0.846 0.071 19 50406444 missense variant T/C snp 0.010 1.000 1 2016 2016