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rs587783503

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783503(C;C)
Make rs587783503(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3731314
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783503
ebirs587783503
HLIrs587783503
Exacrs587783503
Varsomers587783503
Maprs587783503
PheGenIrs587783503
hapmaprs587783503
1000 genomesrs587783503
hgdprs587783503
ensemblrs587783503
gopubmedrs587783503
geneviewrs587783503
scholarrs587783503
googlers587783503
pharmgkbrs587783503
gwascentralrs587783503
openSNPrs587783503
23andMers587783503
23andMe allrs587783503
SNP Nexus

SNPshotrs587783503
SNPdbers587783503
MSV3drs587783503
GWAS Ctlgrs587783503
Max Magnitude0
ClinVar
Risk rs587783503(C;C)
Alt rs587783503(C;C)
Reference rs587783503(T;T)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3781315A>G
CLNSRC
CLNACC RCV000145765.1,