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rs587783473

From SNPedia

Orientationminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs587783473(-;-)
Make rs587783473(-;TC)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3770843
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783473
ebirs587783473
HLIrs587783473
Exacrs587783473
Varsomers587783473
Maprs587783473
PheGenIrs587783473
hapmaprs587783473
1000 genomesrs587783473
hgdprs587783473
ensemblrs587783473
gopubmedrs587783473
geneviewrs587783473
scholarrs587783473
googlers587783473
pharmgkbrs587783473
gwascentralrs587783473
openSNPrs587783473
23andMers587783473
23andMe allrs587783473
SNP Nexus

SNPshotrs587783473
SNPdbers587783473
MSV3drs587783473
GWAS Ctlgrs587783473
Max Magnitude0
ClinVar
Risk rs587783473(;)
Alt rs587783473(;)
Reference rs587783473(TC;TC)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820844_3820845delGA
CLNSRC
CLNACC RCV000145726.1,