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: rs113019349
rs113019349
2 0.925 0.120 11 6616004 splice donor variant C/G;T snv 0.700 1.000 1 1999 1999