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

rs587783463

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783463(A;A)
Make rs587783463(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3792054
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783463
ebirs587783463
HLIrs587783463
Exacrs587783463
Varsomers587783463
Maprs587783463
PheGenIrs587783463
hapmaprs587783463
1000 genomesrs587783463
hgdprs587783463
ensemblrs587783463
gopubmedrs587783463
geneviewrs587783463
scholarrs587783463
googlers587783463
pharmgkbrs587783463
gwascentralrs587783463
openSNPrs587783463
23andMers587783463
23andMe allrs587783463
SNP Nexus

SNPshotrs587783463
SNPdbers587783463
MSV3drs587783463
GWAS Ctlgrs587783463
Max Magnitude0
ClinVar
Risk rs587783463(A;A)
Alt rs587783463(A;A)
Reference rs587783463(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3842055C>T
CLNSRC
CLNACC RCV000145715.1,