Gene: CREBBP ×
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: rs1555473499
rs1555473499
CREBBP
4 0.925 0.120 16 3738605 missense variant A/G snv 0.700 1.000 18 1963 2017
dbSNP: rs1555475250
rs1555475250
CREBBP
1 16 3744921 stop gained G/A snv 0.700 1.000 18 1963 2017
dbSNP: rs1555478331
rs1555478331
CREBBP
1 16 3757990 frameshift variant T/- del 0.700 1.000 18 1963 2017