Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045487

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045487(A;A)
Make rs797045487(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3879915
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045487
ebirs797045487
HLIrs797045487
Exacrs797045487
Varsomers797045487
Maprs797045487
PheGenIrs797045487
hapmaprs797045487
1000 genomesrs797045487
hgdprs797045487
ensemblrs797045487
gopubmedrs797045487
geneviewrs797045487
scholarrs797045487
googlers797045487
pharmgkbrs797045487
gwascentralrs797045487
openSNPrs797045487
23andMers797045487
23andMe allrs797045487
SNP Nexus

SNPshotrs797045487
SNPdbers797045487
MSV3drs797045487
GWAS Ctlgrs797045487
Max Magnitude0
ClinVar
Risk rs797045487(A;A)
Alt rs797045487(A;A)
Reference rs797045487(T;T)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3929916A>T
CLNSRC
CLNACC RCV000193780.1,