{{Rsnum
|rsid=143247685
|Gene=CREBBP
|Chromosome=16
|position=3770722
|Orientation=plus
|GMAF=0.0009183
|Gene_s=CREBBP
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ClinVar
|ALT=A,C
|CAF=0.9991; 0.0009183
|CHROM=16
|CLNACC=RCV000022942.3
|CLNALLE=2
|CLNDBN=Rubinstein-Taybi syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1526:C0035934:180849:783:45582004
|CLNHGVS=NC_000016.9:g.3820723T>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600140.0008
|COMMON=1
|Disease=Rubinstein-Taybi syndrome
|FwdALT=A,C
|FwdREF=T
|GENEINFO=CREBBP:1387
|GENE_ID=1387
|GENE_NAME=CREBBP
|REF=T
|RSPOS=3820723
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000040016110100
|WGT=0
|dbSNPBuildID=134
|rsid=143247685
}}