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rs797045494

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045494(G;T)
Make rs797045494(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3738672
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045494
ebirs797045494
HLIrs797045494
Exacrs797045494
Varsomers797045494
Maprs797045494
PheGenIrs797045494
hapmaprs797045494
1000 genomesrs797045494
hgdprs797045494
ensemblrs797045494
gopubmedrs797045494
geneviewrs797045494
scholarrs797045494
googlers797045494
pharmgkbrs797045494
gwascentralrs797045494
openSNPrs797045494
23andMers797045494
23andMe allrs797045494
SNP Nexus

SNPshotrs797045494
SNPdbers797045494
MSV3drs797045494
GWAS Ctlgrs797045494
Max Magnitude0
ClinVar
Risk rs797045494(T;T)
Alt rs797045494(T;T)
Reference rs797045494(G;G)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3788673C>A
CLNSRC
CLNACC RCV000195137.1,