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: rs886041116
rs886041116
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 1.000 11 2001 2017