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

rs587783475

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783475(C;T)
Make rs587783475(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3770659
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783475
ebirs587783475
HLIrs587783475
Exacrs587783475
Varsomers587783475
Maprs587783475
PheGenIrs587783475
hapmaprs587783475
1000 genomesrs587783475
hgdprs587783475
ensemblrs587783475
gopubmedrs587783475
geneviewrs587783475
scholarrs587783475
googlers587783475
pharmgkbrs587783475
gwascentralrs587783475
openSNPrs587783475
23andMers587783475
23andMe allrs587783475
SNP Nexus

SNPshotrs587783475
SNPdbers587783475
MSV3drs587783475
GWAS Ctlgrs587783475
Max Magnitude0
ClinVar
Risk rs587783475(T;T)
Alt rs587783475(T;T)
Reference rs587783475(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820660G>A
CLNSRC
CLNACC RCV000145730.1,