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rs587783515

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783515(A;C)
Make rs587783515(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3851011
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783515
ebirs587783515
HLIrs587783515
Exacrs587783515
Varsomers587783515
Maprs587783515
PheGenIrs587783515
hapmaprs587783515
1000 genomesrs587783515
hgdprs587783515
ensemblrs587783515
gopubmedrs587783515
geneviewrs587783515
scholarrs587783515
googlers587783515
pharmgkbrs587783515
gwascentralrs587783515
openSNPrs587783515
23andMers587783515
23andMe allrs587783515
SNP Nexus

SNPshotrs587783515
SNPdbers587783515
MSV3drs587783515
GWAS Ctlgrs587783515
Max Magnitude0
ClinVar
Risk rs587783515(C;C)
Alt rs587783515(C;C)
Reference rs587783515(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3901012T>G
CLNSRC
CLNACC RCV000145783.1,