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: rs9792269
rs9792269
5 0.882 0.200 8 128252343 intergenic variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs975730
rs975730
2 8 128303768 intergenic variant G/A snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs970987
rs970987
5 0.851 0.040 9 21585266 regulatory region variant C/A snv 0.55 0.700 1.000 1 2019 2019
dbSNP: rs9683415
rs9683415
4 0.882 4 40290296 regulatory region variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs9657904
rs9657904
3 0.925 0.160 3 105867870 intron variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs9591325
rs9591325
5 0.851 0.080 13 50237084 intron variant T/C snv 6.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs951005
rs951005
10 0.807 0.200 9 34743684 intron variant G/A snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs9507287
rs9507287
5 0.851 0.040 13 24212439 intron variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs945635
rs945635
4 0.882 0.200 1 157700500 5 prime UTR variant C/A;G snv 5.6E-05; 0.45 0.010 1.000 1 2013 2013
dbSNP: rs9392504
rs9392504
7 0.827 0.120 6 412802 downstream gene variant G/A snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs9356551
rs9356551
4 0.882 6 166986857 intron variant T/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs934734
rs934734
4 0.925 0.160 2 65368452 intron variant G/A;T snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs9295089
rs9295089
2 6 159042932 non coding transcript exon variant T/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs926657
rs926657
3 6 159042420 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9264942
rs9264942
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.710 1.000 2 2011 2013
dbSNP: rs907715
rs907715
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs906868
rs906868
4 0.925 0.120 2 30225478 intergenic variant G/T snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs878859113
rs878859113
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs874040
rs874040
4 0.925 0.160 4 26106575 downstream gene variant G/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs8734
rs8734
1 Y 18992540 non coding transcript exon variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs865488
rs865488
TG
4 0.882 8 132926377 intron variant C/T snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs864537
rs864537
4 0.925 0.200 1 167442147 intron variant A/G snv 0.29 0.810 1.000 2 2011 2013
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs8176928
rs8176928
1 16 3656184 missense variant A/G snv 1.0E-03 4.0E-03 0.010 1.000 1 2019 2019