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rs797045037

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045037(A;G)
Make rs797045037(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3729433
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045037
ebirs797045037
HLIrs797045037
Exacrs797045037
Varsomers797045037
Maprs797045037
PheGenIrs797045037
hapmaprs797045037
1000 genomesrs797045037
hgdprs797045037
ensemblrs797045037
gopubmedrs797045037
geneviewrs797045037
scholarrs797045037
googlers797045037
pharmgkbrs797045037
gwascentralrs797045037
openSNPrs797045037
23andMers797045037
23andMe allrs797045037
SNP Nexus

SNPshotrs797045037
SNPdbers797045037
MSV3drs797045037
GWAS Ctlgrs797045037
Max Magnitude0
ClinVar
Risk rs797045037(G;G)
Alt rs797045037(G;G)
Reference rs797045037(A;A)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779434T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191076.1,