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: rs730882242
rs730882242
7 0.807 0.280 5 141573518 stop gained G/A snv 0.010 1.000 1 2016 2016