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: rs1277073914
rs1277073914
2 0.925 0.040 7 100992117 missense variant T/A snv 0.010 1.000 1 2006 2006
dbSNP: rs11583043
rs11583043
1 1.000 0.040 1 101000498 intron variant C/T snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs13107612
rs13107612
5 0.827 0.120 4 101818823 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs4851529
rs4851529
5 0.827 0.120 2 102030838 downstream gene variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs10185424
rs10185424
2 0.925 0.040 2 102046427 intron variant T/G snv 0.62 0.710 1.000 2 2015 2016
dbSNP: rs2310173
rs2310173
2 0.925 0.080 2 102047167 intron variant T/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs871656
rs871656
5 0.827 0.120 2 102154822 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs6543115
rs6543115
1 1.000 0.040 2 102311181 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs6543116
rs6543116
3 0.882 0.120 2 102311266 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs12987977
rs12987977
5 0.827 0.120 2 102358876 intron variant T/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs3740415
rs3740415
1 1.000 0.040 10 102472959 3 prime UTR variant G/A snv 0.48 0.48 0.700 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2011 2014
dbSNP: rs72696119
rs72696119
3 0.925 0.120 4 102501347 5 prime UTR variant C/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs3774937
rs3774937
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.700 1.000 2 2015 2016
dbSNP: rs3774959
rs3774959
2 0.925 0.080 4 102589957 intron variant G/A snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs683878
rs683878
1 1.000 0.040 11 102834927 intron variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs650108
rs650108
6 0.827 0.160 11 102838056 intron variant G/A snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs522616
rs522616
10 0.763 0.320 11 102844317 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2001 2015