rs587783488

Orientation

minus

Stabilized

minus

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

Make rs587783488(C;C)

Make rs587783488(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3740510

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783488
dbSNP (classic)	rs587783488
ClinGen	rs587783488
ebi	rs587783488
HLI	rs587783488
Exac	rs587783488
Gnomad	rs587783488
Varsome	rs587783488
LitVar	rs587783488
Map	rs587783488
PheGenI	rs587783488
Biobank	rs587783488
1000 genomes	rs587783488
hgdp	rs587783488
ensembl	rs587783488
geneview	rs587783488
scholar	rs587783488
google	rs587783488
pharmgkb	rs587783488
gwascentral	rs587783488
openSNP	rs587783488
23andMe	rs587783488
SNPshot	rs587783488
SNPdbe	rs587783488
MSV3d	rs587783488
GWAS Ctlg	rs587783488

Max Magnitude

0

ClinVar
Risk	rs587783488(C;C)
Alt	rs587783488(C;C)
Reference	Rs587783488(G;G)
Significance	Probable-Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790511C>G
CLNSRC
CLNACC	RCV000145746.1,