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: rs104894262
rs104894262
1 1.000 0.040 11 64807994 splice donor variant A/T snv 0.010 1.000 1 1998 1998