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rs587783485

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783485(G;T)
Make rs587783485(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3745274
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783485
ebirs587783485
HLIrs587783485
Exacrs587783485
Varsomers587783485
Maprs587783485
PheGenIrs587783485
hapmaprs587783485
1000 genomesrs587783485
hgdprs587783485
ensemblrs587783485
gopubmedrs587783485
geneviewrs587783485
scholarrs587783485
googlers587783485
pharmgkbrs587783485
gwascentralrs587783485
openSNPrs587783485
23andMers587783485
23andMe allrs587783485
SNP Nexus

SNPshotrs587783485
SNPdbers587783485
MSV3drs587783485
GWAS Ctlgrs587783485
Max Magnitude0
ClinVar
Risk rs587783485(A,T;A,T)
Alt rs587783485(A,T;A,T)
Reference rs587783485(G;G)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3795275C>A
CLNSRC
CLNACC RCV000145743.1,