rs587783489

Orientation

minus

Stabilized

minus

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

Make rs587783489(C;T)

Make rs587783489(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3740487

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783489
dbSNP (classic)	rs587783489
ClinGen	rs587783489
ebi	rs587783489
HLI	rs587783489
Exac	rs587783489
Gnomad	rs587783489
Varsome	rs587783489
LitVar	rs587783489
Map	rs587783489
PheGenI	rs587783489
Biobank	rs587783489
1000 genomes	rs587783489
hgdp	rs587783489
ensembl	rs587783489
geneview	rs587783489
scholar	rs587783489
google	rs587783489
pharmgkb	rs587783489
gwascentral	rs587783489
openSNP	rs587783489
23andMe	rs587783489
SNPshot	rs587783489
SNPdbe	rs587783489
MSV3d	rs587783489
GWAS Ctlg	rs587783489

Max Magnitude

0

ClinVar
Risk	rs587783489(T;T)
Alt	rs587783489(T;T)
Reference	Rs587783489(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790488G>A
CLNSRC
CLNACC	RCV000145747.1,