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rs267606752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606752(A;A)
Make rs267606752(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position3749631
GeneCREBBP
is asnp
is mentioned by
dbSNPrs267606752
ebirs267606752
HLIrs267606752
Exacrs267606752
Varsomers267606752
Maprs267606752
PheGenIrs267606752
hapmaprs267606752
1000 genomesrs267606752
hgdprs267606752
ensemblrs267606752
gopubmedrs267606752
geneviewrs267606752
scholarrs267606752
googlers267606752
pharmgkbrs267606752
gwascentralrs267606752
openSNPrs267606752
23andMers267606752
23andMe allrs267606752
SNP Nexus

SNPshotrs267606752
SNPdbers267606752
MSV3drs267606752
GWAS Ctlgrs267606752
Max Magnitude0
ClinVar
Risk rs267606752(A;A)
Alt rs267606752(A;A)
Reference rs267606752(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3799632C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010040.3,