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: rs794728615
rs794728615
5 0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 0.010 1.000 1 2012 2012