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rs200782888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200782888(A;A)
Make rs200782888(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position3749626
GeneCREBBP
is asnp
is mentioned by
dbSNPrs200782888
ebirs200782888
HLIrs200782888
Exacrs200782888
Varsomers200782888
Maprs200782888
PheGenIrs200782888
hapmaprs200782888
1000 genomesrs200782888
hgdprs200782888
ensemblrs200782888
gopubmedrs200782888
geneviewrs200782888
scholarrs200782888
googlers200782888
pharmgkbrs200782888
gwascentralrs200782888
openSNPrs200782888
23andMers200782888
23andMe allrs200782888
SNP Nexus

SNPshotrs200782888
SNPdbers200782888
MSV3drs200782888
GWAS Ctlgrs200782888
Max Magnitude0
ClinVar
Risk rs200782888(A;A)
Alt rs200782888(A;A)
Reference rs200782888(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3799627C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000145741.1,