Gene: KAT6B ×
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: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1554844486
rs1554844486
KAT6B
10 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0