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rs797045496

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045496(A;A)
Make rs797045496(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3729635
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045496
ebirs797045496
HLIrs797045496
Exacrs797045496
Varsomers797045496
Maprs797045496
PheGenIrs797045496
hapmaprs797045496
1000 genomesrs797045496
hgdprs797045496
ensemblrs797045496
gopubmedrs797045496
geneviewrs797045496
scholarrs797045496
googlers797045496
pharmgkbrs797045496
gwascentralrs797045496
openSNPrs797045496
23andMers797045496
23andMe allrs797045496
SNP Nexus

SNPshotrs797045496
SNPdbers797045496
MSV3drs797045496
GWAS Ctlgrs797045496
Max Magnitude0
ClinVar
Risk rs797045496(A;A)
Alt rs797045496(A;A)
Reference rs797045496(C;C)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779636G>T
CLNSRC
CLNACC RCV000194204.1,