Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045492

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045492(C;C)
Make rs797045492(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3757928
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045492
ebirs797045492
HLIrs797045492
Exacrs797045492
Varsomers797045492
Maprs797045492
PheGenIrs797045492
hapmaprs797045492
1000 genomesrs797045492
hgdprs797045492
ensemblrs797045492
gopubmedrs797045492
geneviewrs797045492
scholarrs797045492
googlers797045492
pharmgkbrs797045492
gwascentralrs797045492
openSNPrs797045492
23andMers797045492
23andMe allrs797045492
SNP Nexus

SNPshotrs797045492
SNPdbers797045492
MSV3drs797045492
GWAS Ctlgrs797045492
Max Magnitude0
ClinVar
Risk rs797045492(C;C)
Alt rs797045492(C;C)
Reference rs797045492(G;G)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807929C>G
CLNSRC
CLNACC RCV000192723.1,