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: rs6557634
rs6557634
11 0.763 0.080 8 23202743 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs6742078
rs6742078
8 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs693
rs693
17 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2010 2010
dbSNP: rs708272
rs708272
20 0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38 0.010 1.000 1 2010 2010
dbSNP: rs749661564
rs749661564
2 0.925 0.040 2 43852775 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs887829
rs887829
7 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012