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rs11644721

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11644721(C;T)
Make rs11644721(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3851010
GeneCREBBP
is asnp
is mentioned by
dbSNPrs11644721
ebirs11644721
HLIrs11644721
Exacrs11644721
Varsomers11644721
Maprs11644721
PheGenIrs11644721
hapmaprs11644721
1000 genomesrs11644721
hgdprs11644721
ensemblrs11644721
gopubmedrs11644721
geneviewrs11644721
scholarrs11644721
googlers11644721
pharmgkbrs11644721
gwascentralrs11644721
openSNPrs11644721
23andMers11644721
23andMe allrs11644721
SNP Nexus

SNPshotrs11644721
SNPdbers11644721
MSV3drs11644721
GWAS Ctlgrs11644721
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs11644721(T;T)
Alt rs11644721(T;T)
Reference rs11644721(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 0
HGVS NC_000016.9:g.3901011C>A
CLNSRC
CLNACC RCV000193581.1,