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rs587783496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783496(A;G)
Make rs587783496(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3736765
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783496
dbSNP (classic)rs587783496
ClinGenrs587783496
ebirs587783496
HLIrs587783496
Exacrs587783496
Gnomadrs587783496
Varsomers587783496
LitVarrs587783496
Maprs587783496
PheGenIrs587783496
Biobankrs587783496
1000 genomesrs587783496
hgdprs587783496
ensemblrs587783496
geneviewrs587783496
scholarrs587783496
googlers587783496
pharmgkbrs587783496
gwascentralrs587783496
openSNPrs587783496
23andMers587783496
SNPshotrs587783496
SNPdbers587783496
MSV3drs587783496
GWAS Ctlgrs587783496
Max Magnitude0
ClinVar
Risk rs587783496(G;G)
Alt rs587783496(G;G)
Reference Rs587783496(A;A)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3786766T>C
CLNSRC
CLNACC RCV000145756.1,