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rs797045498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045498(-;T)
Make rs797045498(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3729110
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045498
dbSNP (old)rs797045498
ClinGenrs797045498
ebirs797045498
HLIrs797045498
Exacrs797045498
Gnomadrs797045498
Varsomers797045498
Maprs797045498
PheGenIrs797045498
Biobankrs797045498
1000 genomesrs797045498
hgdprs797045498
ensemblrs797045498
gopubmedrs797045498
geneviewrs797045498
scholarrs797045498
googlers797045498
pharmgkbrs797045498
gwascentralrs797045498
openSNPrs797045498
23andMers797045498
23andMe allrs797045498
SNP Nexus

SNPshotrs797045498
SNPdbers797045498
MSV3drs797045498
GWAS Ctlgrs797045498
Max Magnitude0
ClinVar
Risk rs797045498(T;T)
Alt rs797045498(T;T)
Reference Rs797045498(-;-)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779111_3779112insA
CLNSRC
CLNACC RCV000193252.1,