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rs587783469

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783469(-;-)
Make rs587783469(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3778098
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783469
ebirs587783469
HLIrs587783469
Exacrs587783469
Varsomers587783469
Maprs587783469
PheGenIrs587783469
hapmaprs587783469
1000 genomesrs587783469
hgdprs587783469
ensemblrs587783469
gopubmedrs587783469
geneviewrs587783469
scholarrs587783469
googlers587783469
pharmgkbrs587783469
gwascentralrs587783469
openSNPrs587783469
23andMers587783469
23andMe allrs587783469
SNP Nexus

SNPshotrs587783469
SNPdbers587783469
MSV3drs587783469
GWAS Ctlgrs587783469
Max Magnitude0
ClinVar
Risk rs587783469(;)
Alt rs587783469(;)
Reference rs587783469(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3828099delG
CLNSRC
CLNACC RCV000145722.1,