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: rs184953805
rs184953805
8 0.882 0.200 3 48467284 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs78300695
rs78300695
8 0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05 0.700 1.000 1 2016 2016