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rs587783500

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783500(-;-)
Make rs587783500(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3731874
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783500
ebirs587783500
HLIrs587783500
Exacrs587783500
Varsomers587783500
Maprs587783500
PheGenIrs587783500
hapmaprs587783500
1000 genomesrs587783500
hgdprs587783500
ensemblrs587783500
gopubmedrs587783500
geneviewrs587783500
scholarrs587783500
googlers587783500
pharmgkbrs587783500
gwascentralrs587783500
openSNPrs587783500
23andMers587783500
23andMe allrs587783500
SNP Nexus

SNPshotrs587783500
SNPdbers587783500
MSV3drs587783500
GWAS Ctlgrs587783500
Max Magnitude0
ClinVar
Risk rs587783500(;)
Alt rs587783500(;)
Reference rs587783500(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3781875delT
CLNSRC
CLNACC RCV000145762.1,