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: rs149104283
rs149104283
4 0.882 0.040 12 20930928 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4149117
rs4149117
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2017 2017
dbSNP: rs7311358
rs7311358
6 0.827 0.160 12 20862826 missense variant G/A snv 0.81 0.72 0.010 1.000 1 2017 2017