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rs587783488

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783488(C;C)
Make rs587783488(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3740510
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783488
ebirs587783488
HLIrs587783488
Exacrs587783488
Varsomers587783488
Maprs587783488
PheGenIrs587783488
hapmaprs587783488
1000 genomesrs587783488
hgdprs587783488
ensemblrs587783488
gopubmedrs587783488
geneviewrs587783488
scholarrs587783488
googlers587783488
pharmgkbrs587783488
gwascentralrs587783488
openSNPrs587783488
23andMers587783488
23andMe allrs587783488
SNP Nexus

SNPshotrs587783488
SNPdbers587783488
MSV3drs587783488
GWAS Ctlgrs587783488
Max Magnitude0
ClinVar
Risk rs587783488(C;C)
Alt rs587783488(C;C)
Reference rs587783488(G;G)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3790511C>G
CLNSRC
CLNACC RCV000145746.1,