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: rs2014886
rs2014886
1 1.000 0.080 12 57783654 splice donor variant C/T snv 0.36 0.26 0.010 1.000 1 2013 2013