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

rs587783490

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783490(C;T)
Make rs587783490(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3740454
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783490
ebirs587783490
HLIrs587783490
Exacrs587783490
Varsomers587783490
Maprs587783490
PheGenIrs587783490
hapmaprs587783490
1000 genomesrs587783490
hgdprs587783490
ensemblrs587783490
gopubmedrs587783490
geneviewrs587783490
scholarrs587783490
googlers587783490
pharmgkbrs587783490
gwascentralrs587783490
openSNPrs587783490
23andMers587783490
23andMe allrs587783490
SNP Nexus

SNPshotrs587783490
SNPdbers587783490
MSV3drs587783490
GWAS Ctlgrs587783490
Max Magnitude0
ClinVar
Risk rs587783490(T;T)
Alt rs587783490(T;T)
Reference rs587783490(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3790455G>A
CLNSRC
CLNACC RCV000145748.1,