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: rs121909674
rs121909674
8 0.790 0.080 5 162153132 stop gained C/T snv 0.030 1.000 3 2015 2017
dbSNP: rs397514737
rs397514737
4 0.882 0.080 5 162149153 missense variant G/A snv 0.010 1.000 1 2017 2017