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rs143247685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143247685(C;C)
Make rs143247685(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position3770722
GeneCREBBP
is asnp
is mentioned by
dbSNPrs143247685
ebirs143247685
HLIrs143247685
Exacrs143247685
Varsomers143247685
Maprs143247685
PheGenIrs143247685
hapmaprs143247685
1000 genomesrs143247685
hgdprs143247685
ensemblrs143247685
gopubmedrs143247685
geneviewrs143247685
scholarrs143247685
googlers143247685
pharmgkbrs143247685
gwascentralrs143247685
openSNPrs143247685
23andMers143247685
23andMe allrs143247685
SNP Nexus

SNPshotrs143247685
SNPdbers143247685
MSV3drs143247685
GWAS Ctlgrs143247685
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs143247685(A,C;A,C)
Alt rs143247685(A,C;A,C)
Reference rs143247685(T;T)
Significance Other
Disease not specified Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN not specified Rubinstein-Taybi syndrome
Reversed 0
HGVS NC_000016.9:g.3820723T>A; NC_000016.9:g.3820723T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000120591.4, RCV000022942.5, RCV000145728.5,