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rs587783493

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783493(C;G)
Make rs587783493(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3738683
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783493
ebirs587783493
HLIrs587783493
Exacrs587783493
Varsomers587783493
Maprs587783493
PheGenIrs587783493
hapmaprs587783493
1000 genomesrs587783493
hgdprs587783493
ensemblrs587783493
gopubmedrs587783493
geneviewrs587783493
scholarrs587783493
googlers587783493
pharmgkbrs587783493
gwascentralrs587783493
openSNPrs587783493
23andMers587783493
23andMe allrs587783493
SNP Nexus

SNPshotrs587783493
SNPdbers587783493
MSV3drs587783493
GWAS Ctlgrs587783493
Max Magnitude0
ClinVar
Risk rs587783493(G;G)
Alt rs587783493(G;G)
Reference rs587783493(C;C)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3788684G>C
CLNSRC
CLNACC RCV000145752.1,