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: rs63750355
rs63750355
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008