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: rs113593938
rs113593938
7 0.790 0.200 21 44250907 missense variant C/T snv 3.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs2276248
rs2276248
2 1.000 0.040 21 44259375 intron variant T/C snv 6.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs7354779
rs7354779
6 0.827 0.200 21 44250887 missense variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs8129776
rs8129776
3 0.882 0.120 21 44249746 intron variant G/A snv 0.010 1.000 1 2016 2016