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: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.020 1.000 2 2006 2017
dbSNP: rs1333955
rs1333955
4 0.851 0.080 6 162792422 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2069705
rs2069705
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs9282799
rs9282799
1 1.000 0.080 17 27801702 intron variant G/A snv 1.5E-02 0.010 1.000 1 2017 2017