rs121434626

Orientation

minus

Stabilized

minus

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

Make rs121434626(C;C)

Make rs121434626(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3740399

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs121434626
dbSNP (classic)	rs121434626
ClinGen	rs121434626
ebi	rs121434626
HLI	rs121434626
Exac	rs121434626
Gnomad	rs121434626
Varsome	rs121434626
LitVar	rs121434626
Map	rs121434626
PheGenI	rs121434626
Biobank	rs121434626
1000 genomes	rs121434626
hgdp	rs121434626
ensembl	rs121434626
geneview	rs121434626
scholar	rs121434626
google	rs121434626
pharmgkb	rs121434626
gwascentral	rs121434626
openSNP	rs121434626
23andMe	rs121434626
SNPshot	rs121434626
SNPdbe	rs121434626
MSV3d	rs121434626
GWAS Ctlg	rs121434626

Max Magnitude

0

OMIM	600140
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434626(C;C)
Alt	rs121434626(C;C)
Reference	Rs121434626(G;G)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790400C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010037.4,