Gene: KMT2D ×
Source: ALL
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: rs587783685
rs587783685
KMT2D
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017