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rs587783497

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783497(A;G)
Make rs587783497(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3736702
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783497
ebirs587783497
HLIrs587783497
Exacrs587783497
Varsomers587783497
Maprs587783497
PheGenIrs587783497
hapmaprs587783497
1000 genomesrs587783497
hgdprs587783497
ensemblrs587783497
gopubmedrs587783497
geneviewrs587783497
scholarrs587783497
googlers587783497
pharmgkbrs587783497
gwascentralrs587783497
openSNPrs587783497
23andMers587783497
23andMe allrs587783497
SNP Nexus

SNPshotrs587783497
SNPdbers587783497
MSV3drs587783497
GWAS Ctlgrs587783497
Max Magnitude0
ClinVar
Risk rs587783497(G;G)
Alt rs587783497(G;G)
Reference rs587783497(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3786703T>C
CLNSRC
CLNACC RCV000145757.1,