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: rs138326449
rs138326449
5 0.851 0.080 11 116830638 splice donor variant G/A snv 1.4E-03 1.5E-03 0.010 1.000 1 2016 2016