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rs587783499

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783499(-;-)
Make rs587783499(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3736075
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783499
ebirs587783499
HLIrs587783499
Exacrs587783499
Varsomers587783499
Maprs587783499
PheGenIrs587783499
hapmaprs587783499
1000 genomesrs587783499
hgdprs587783499
ensemblrs587783499
gopubmedrs587783499
geneviewrs587783499
scholarrs587783499
googlers587783499
pharmgkbrs587783499
gwascentralrs587783499
openSNPrs587783499
23andMers587783499
23andMe allrs587783499
SNP Nexus

SNPshotrs587783499
SNPdbers587783499
MSV3drs587783499
GWAS Ctlgrs587783499
Max Magnitude0
ClinVar
Risk rs587783499(;)
Alt rs587783499(;)
Reference rs587783499(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3786076delC
CLNSRC
CLNACC RCV000145760.1,