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rs587783478

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783478(C;T)
Make rs587783478(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3850779
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783478
ebirs587783478
HLIrs587783478
Exacrs587783478
Varsomers587783478
Maprs587783478
PheGenIrs587783478
hapmaprs587783478
1000 genomesrs587783478
hgdprs587783478
ensemblrs587783478
gopubmedrs587783478
geneviewrs587783478
scholarrs587783478
googlers587783478
pharmgkbrs587783478
gwascentralrs587783478
openSNPrs587783478
23andMers587783478
23andMe allrs587783478
SNP Nexus

SNPshotrs587783478
SNPdbers587783478
MSV3drs587783478
GWAS Ctlgrs587783478
Max Magnitude0
ClinVar
Risk rs587783478(T;T)
Alt rs587783478(T;T)
Reference rs587783478(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900780G>A
CLNSRC
CLNACC RCV000145734.1,