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: rs587782818
rs587782818
8 0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs767796996
rs767796996
6 0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06 0.010 1.000 1 2017 2017