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: rs1131692239
rs1131692239
KIT
1 1.000 0.080 4 54727496 inframe deletion CTTATGATC/- delins 0.700 1.000 1 2011 2011