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

rs587783479

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783479(C;T)
Make rs587783479(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3758913
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783479
ebirs587783479
HLIrs587783479
Exacrs587783479
Varsomers587783479
Maprs587783479
PheGenIrs587783479
hapmaprs587783479
1000 genomesrs587783479
hgdprs587783479
ensemblrs587783479
gopubmedrs587783479
geneviewrs587783479
scholarrs587783479
googlers587783479
pharmgkbrs587783479
gwascentralrs587783479
openSNPrs587783479
23andMers587783479
23andMe allrs587783479
SNP Nexus

SNPshotrs587783479
SNPdbers587783479
MSV3drs587783479
GWAS Ctlgrs587783479
Max Magnitude0
ClinVar
Risk rs587783479(T;T)
Alt rs587783479(T;T)
Reference rs587783479(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3808914G>A
CLNSRC
CLNACC RCV000145735.1,