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: rs3117582
rs3117582
8 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.060 1.000 6 2009 2017
dbSNP: rs1052486
rs1052486
3 0.851 0.200 6 31642909 missense variant A/G snv 0.51 0.44 0.020 1.000 2 2014 2014
dbSNP: rs575508709
rs575508709
3 0.882 0.080 6 31649333 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017