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: rs887829
rs887829
8 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.800 1.000 6 2009 2015
dbSNP: rs4148325
rs4148325
8 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.800 1.000 5 2011 2019
dbSNP: rs6742078
rs6742078
2 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.800 1.000 4 2009 2015
dbSNP: rs929596
rs929596
7 0.925 0.040 2 233765830 intron variant A/G snv 0.32 0.800 1.000 3 2012 2019
dbSNP: rs4148323
rs4148323
1 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.800 1.000 2 2010 2013
dbSNP: rs28946889
rs28946889
1 2 233762816 intron variant G/T snv 0.20 0.800 1.000 1 2009 2018
dbSNP: rs3755319
rs3755319
5 0.925 0.120 2 233758936 intron variant A/C;G;T snv 0.800 1.000 1 2009 2015
dbSNP: rs4148324
rs4148324
2 2 233764076 intron variant T/A;G snv 0.36 0.800 1.000 1 2012 2015
dbSNP: rs6431630
rs6431630
2 2 233768740 intron variant G/A snv 0.18 0.800 1.000 1 2009 2018
dbSNP: rs8330
rs8330
1 1.000 0.040 2 233772999 3 prime UTR variant G/C snv 0.72 0.800 1.000 1 2009 2018
dbSNP: rs3771341
rs3771341
2 2 233764593 intron variant G/A;T snv 0.33 0.700 1.000 1 2015 2015