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rs129974

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs129974(G;T)
Make rs129974(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position3745291
GeneCREBBP
is asnp
is mentioned by
dbSNPrs129974
ebirs129974
HLIrs129974
Exacrs129974
Varsomers129974
Maprs129974
PheGenIrs129974
hapmaprs129974
1000 genomesrs129974
hgdprs129974
ensemblrs129974
gopubmedrs129974
geneviewrs129974
scholarrs129974
googlers129974
pharmgkbrs129974
gwascentralrs129974
openSNPrs129974
23andMers129974
23andMe allrs129974
SNP Nexus

SNPshotrs129974
SNPdbers129974
MSV3drs129974
GWAS Ctlgrs129974
GMAF0.05831
Max Magnitude0
? (G;G) (G;T) (T;T) 28

[PMID 20689175] Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome


[PMID 22198373] Possible influence of CREB1, CREBBP and CREM variants on diagnosis and treatment outcome in patients with schizophrenia.


ClinVar
Risk rs129974(A,T;A,T)
Alt rs129974(A,T;A,T)
Reference rs129974(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CREBBP
CLNDBN not specified
Reversed 0
HGVS NC_000016.9:g.3795292G>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000145742.1,