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rs587783516

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783516(A;A)
Make rs587783516(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3810625
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783516
ebirs587783516
HLIrs587783516
Exacrs587783516
Varsomers587783516
Maprs587783516
PheGenIrs587783516
hapmaprs587783516
1000 genomesrs587783516
hgdprs587783516
ensemblrs587783516
gopubmedrs587783516
geneviewrs587783516
scholarrs587783516
googlers587783516
pharmgkbrs587783516
gwascentralrs587783516
openSNPrs587783516
23andMers587783516
23andMe allrs587783516
SNP Nexus

SNPshotrs587783516
SNPdbers587783516
MSV3drs587783516
GWAS Ctlgrs587783516
Max Magnitude0
ClinVar
Risk rs587783516(A;A)
Alt rs587783516(A;A)
Reference rs587783516(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3860626G>T
CLNSRC
CLNACC RCV000145784.1,