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rs587783495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783495(G;G)
Make rs587783495(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3736766
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783495
dbSNP (classic)rs587783495
ClinGenrs587783495
ebirs587783495
HLIrs587783495
Exacrs587783495
Gnomadrs587783495
Varsomers587783495
LitVarrs587783495
Maprs587783495
PheGenIrs587783495
Biobankrs587783495
1000 genomesrs587783495
hgdprs587783495
ensemblrs587783495
geneviewrs587783495
scholarrs587783495
googlers587783495
pharmgkbrs587783495
gwascentralrs587783495
openSNPrs587783495
23andMers587783495
SNPshotrs587783495
SNPdbers587783495
MSV3drs587783495
GWAS Ctlgrs587783495
Max Magnitude0
ClinVar
Risk rs587783495(G;G)
Alt rs587783495(G;G)
Reference Rs587783495(T;T)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3786767A>C
CLNSRC
CLNACC RCV000145755.1,