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: rs797044915
rs797044915
2 1.000 6 33176015 splice donor variant C/A snv 0.700 1.000 17 1975 2012