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rs587783481

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783481(A;G)
Make rs587783481(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3757918
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783481
ebirs587783481
HLIrs587783481
Exacrs587783481
Varsomers587783481
Maprs587783481
PheGenIrs587783481
hapmaprs587783481
1000 genomesrs587783481
hgdprs587783481
ensemblrs587783481
gopubmedrs587783481
geneviewrs587783481
scholarrs587783481
googlers587783481
pharmgkbrs587783481
gwascentralrs587783481
openSNPrs587783481
23andMers587783481
23andMe allrs587783481
SNP Nexus

SNPshotrs587783481
SNPdbers587783481
MSV3drs587783481
GWAS Ctlgrs587783481
Max Magnitude0
ClinVar
Risk rs587783481(G;G)
Alt rs587783481(G;G)
Reference rs587783481(A;A)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807919T>C
CLNSRC
CLNACC RCV000145737.1,