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rs797045490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045490(-;T)
Make rs797045490(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3757956
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045490
dbSNP (old)rs797045490
ClinGenrs797045490
ebirs797045490
HLIrs797045490
Exacrs797045490
Gnomadrs797045490
Varsomers797045490
Maprs797045490
PheGenIrs797045490
Biobankrs797045490
1000 genomesrs797045490
hgdprs797045490
ensemblrs797045490
gopubmedrs797045490
geneviewrs797045490
scholarrs797045490
googlers797045490
pharmgkbrs797045490
gwascentralrs797045490
openSNPrs797045490
23andMers797045490
23andMe allrs797045490
SNP Nexus

SNPshotrs797045490
SNPdbers797045490
MSV3drs797045490
GWAS Ctlgrs797045490
Max Magnitude0
ClinVar
Risk rs797045490(T;T)
Alt rs797045490(T;T)
Reference Rs797045490(-;-)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807958dupA
CLNSRC
CLNACC RCV000194047.1,