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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.857 14 2005 2019
dbSNP: rs9355610
rs9355610
3 0.882 0.200 6 166969587 downstream gene variant G/A;T snv 0.850 1.000 6 2011 2018
dbSNP: rs6832151
rs6832151
2 0.925 0.160 4 40301616 intergenic variant G/A;T snv 0.830 1.000 4 2011 2017
dbSNP: rs4947296
rs4947296
5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.810 0.667 3 2011 2019
dbSNP: rs1024161
rs1024161
2 0.925 0.160 2 203857029 intergenic variant T/A;C snv 0.810 1.000 2 2011 2019
dbSNP: rs12101261
rs12101261
1 1.000 0.120 14 80984885 intron variant C/T snv 0.37 0.810 1.000 2 2011 2014
dbSNP: rs2294025
rs2294025
TG
1 1.000 0.120 8 133133268 intron variant G/A snv 0.49 0.810 1.000 2 2013 2019
dbSNP: rs229527
rs229527
2 0.925 0.160 22 37185445 missense variant C/A;G snv 0.43 0.810 1.000 2 2013 2017
dbSNP: rs3761959
rs3761959
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.810 1.000 2 2011 2013
dbSNP: rs4713693
rs4713693
1 1.000 0.120 6 33850152 intergenic variant T/C snv 0.45 0.810 1.000 1 2011 2011
dbSNP: rs1521
rs1521
3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.800 1.000 2 2011 2019
dbSNP: rs2281388
rs2281388
4 0.851 0.400 6 33092341 non coding transcript exon variant G/A snv 2.6E-02 0.800 1.000 2 2011 2019
dbSNP: rs5912838
rs5912838
2 0.925 0.280 X 79241621 intergenic variant A/C snv 0.800 1.000 2 2013 2019
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2011 2019
dbSNP: rs11571297
rs11571297
3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs1265883
rs1265883
1 1.000 0.120 1 160495121 intron variant C/A;G snv 0.96 0.800 1.000 1 2013 2013
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.800 1.000 1 2012 2012
dbSNP: rs1456988
rs1456988
2 0.925 0.160 14 98021670 intergenic variant G/T snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs2273017
rs2273017
1 1.000 0.120 6 32369853 intron variant G/A;C snv 0.59 0.800 1.000 1 2011 2011
dbSNP: rs2300519
rs2300519
1 1.000 0.120 14 80992418 3 prime UTR variant T/A snv 0.41 0.800 1.000 1 2012 2012
dbSNP: rs2843403
rs2843403
3 0.882 0.200 1 2597658 intron variant T/C snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs3132613
rs3132613
1 1.000 0.120 6 30569829 upstream gene variant C/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs3893464
rs3893464
3 1.000 0.120 6 29967473 downstream gene variant G/A snv 0.46 0.800 1.000 1 2011 2011
dbSNP: rs4248154
rs4248154
2 0.925 0.200 6 31034839 synonymous variant C/T snv 0.20 0.17 0.800 1.000 1 2011 2011
dbSNP: rs4313034
rs4313034
3 0.925 0.160 6 30006148 non coding transcript exon variant C/T snv 0.78 0.800 1.000 1 2011 2011