Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28937315(A;G)
Make rs28937315(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position3757894
GeneCREBBP
is asnp
is mentioned by
dbSNPrs28937315
ebirs28937315
HLIrs28937315
Exacrs28937315
Varsomers28937315
Maprs28937315
PheGenIrs28937315
hapmaprs28937315
1000 genomesrs28937315
hgdprs28937315
ensemblrs28937315
gopubmedrs28937315
geneviewrs28937315
scholarrs28937315
googlers28937315
pharmgkbrs28937315
gwascentralrs28937315
openSNPrs28937315
23andMers28937315
23andMe allrs28937315
SNP Nexus

SNPshotrs28937315
SNPdbers28937315
MSV3drs28937315
GWAS Ctlgrs28937315
Max Magnitude0
OMIM600140
DescRUBINSTEIN-TAYBI SYNDROME, INCOMPLETE
Variant0005
Relatedalso


ClinVar
Risk rs28937315(G;G)
Alt rs28937315(G;G)
Reference rs28937315(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807895T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010039.4,