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: rs750479210
rs750479210
1 1.000 0.080 19 35284791 splice region variant G/A snv 1.6E-05 0.010 1.000 1 2014 2014