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rs587783482

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783482(G;T)
Make rs587783482(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3757373
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783482
ebirs587783482
HLIrs587783482
Exacrs587783482
Varsomers587783482
Maprs587783482
PheGenIrs587783482
hapmaprs587783482
1000 genomesrs587783482
hgdprs587783482
ensemblrs587783482
gopubmedrs587783482
geneviewrs587783482
scholarrs587783482
googlers587783482
pharmgkbrs587783482
gwascentralrs587783482
openSNPrs587783482
23andMers587783482
23andMe allrs587783482
SNP Nexus

SNPshotrs587783482
SNPdbers587783482
MSV3drs587783482
GWAS Ctlgrs587783482
Max Magnitude0
ClinVar
Risk rs587783482(T;T)
Alt rs587783482(T;T)
Reference rs587783482(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807374C>A
CLNSRC
CLNACC RCV000145738.1,