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
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.810 1.000 2 2012 2016
dbSNP: rs6742078
rs6742078
13 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.020 1.000 2 2010 2013
dbSNP: rs8175347
rs8175347
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.020 1.000 2 2016 2019
dbSNP: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs774010631
rs774010631
5 0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05 0.010 1.000 1 2008 2008