rs121434624

Orientation

minus

Stabilized

minus

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

Make rs121434624(C;T)

Make rs121434624(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3850689

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs121434624
dbSNP (classic)	rs121434624
ClinGen	rs121434624
ebi	rs121434624
HLI	rs121434624
Exac	rs121434624
Gnomad	rs121434624
Varsome	rs121434624
LitVar	rs121434624
Map	rs121434624
PheGenI	rs121434624
Biobank	rs121434624
1000 genomes	rs121434624
hgdp	rs121434624
ensembl	rs121434624
geneview	rs121434624
scholar	rs121434624
google	rs121434624
pharmgkb	rs121434624
gwascentral	rs121434624
openSNP	rs121434624
23andMe	rs121434624
SNPshot	rs121434624
SNPdbe	rs121434624
MSV3d	rs121434624
GWAS Ctlg	rs121434624

Max Magnitude

0

OMIM	600140
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434624(G;G) rs121434624(T;T)
Alt	rs121434624(G;G) rs121434624(T;T)
Reference	Rs121434624(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3900690G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010035.2,