rs587783482

Orientation

minus

Stabilized

minus

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

Make rs587783482(G;T)

Make rs587783482(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3757373

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783482
dbSNP (classic)	rs587783482
ClinGen	rs587783482
ebi	rs587783482
HLI	rs587783482
Exac	rs587783482
Gnomad	rs587783482
Varsome	rs587783482
LitVar	rs587783482
Map	rs587783482
PheGenI	rs587783482
Biobank	rs587783482
1000 genomes	rs587783482
hgdp	rs587783482
ensembl	rs587783482
geneview	rs587783482
scholar	rs587783482
google	rs587783482
pharmgkb	rs587783482
gwascentral	rs587783482
openSNP	rs587783482
23andMe	rs587783482
SNPshot	rs587783482
SNPdbe	rs587783482
MSV3d	rs587783482
GWAS Ctlg	rs587783482

Max Magnitude

0

ClinVar
Risk	rs587783482(T;T)
Alt	rs587783482(T;T)
Reference	Rs587783482(G;G)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3807374C>A
CLNSRC
CLNACC	RCV000145738.1,