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: rs1554904159
rs1554904159
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019