rs121434625

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121434625(C;T)

Make rs121434625(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3793533

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs121434625
dbSNP (classic)	rs121434625
ClinGen	rs121434625
ebi	rs121434625
HLI	rs121434625
Exac	rs121434625
Gnomad	rs121434625
Varsome	rs121434625
LitVar	rs121434625
Map	rs121434625
PheGenI	rs121434625
Biobank	rs121434625
1000 genomes	rs121434625
hgdp	rs121434625
ensembl	rs121434625
geneview	rs121434625
scholar	rs121434625
google	rs121434625
pharmgkb	rs121434625
gwascentral	rs121434625
openSNP	rs121434625
23andMe	rs121434625
SNPshot	rs121434625
SNPdbe	rs121434625
MSV3d	rs121434625
GWAS Ctlg	rs121434625

Max Magnitude

0

OMIM	600140
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434625(T;T)
Alt	rs121434625(T;T)
Reference	Rs121434625(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3843534G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010036.2,