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rs147688139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147688139(A;G)
Make rs147688139(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position3736812
GeneCREBBP
is asnp
is mentioned by
dbSNPrs147688139
ebirs147688139
HLIrs147688139
Exacrs147688139
Varsomers147688139
Maprs147688139
PheGenIrs147688139
hapmaprs147688139
1000 genomesrs147688139
hgdprs147688139
ensemblrs147688139
gopubmedrs147688139
geneviewrs147688139
scholarrs147688139
googlers147688139
pharmgkbrs147688139
gwascentralrs147688139
openSNPrs147688139
23andMers147688139
23andMe allrs147688139
SNP Nexus

SNPshotrs147688139
SNPdbers147688139
MSV3drs147688139
GWAS Ctlgrs147688139
Max Magnitude0
ClinVar
Risk rs147688139(G,T;G,T)
Alt rs147688139(G,T;G,T)
Reference rs147688139(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 0
HGVS NC_000016.9:g.3786813A>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000145754.1,