rs587783497

Orientation

minus

Stabilized

minus

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

Make rs587783497(A;G)

Make rs587783497(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3736702

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783497
dbSNP (classic)	rs587783497
ClinGen	rs587783497
ebi	rs587783497
HLI	rs587783497
Exac	rs587783497
Gnomad	rs587783497
Varsome	rs587783497
LitVar	rs587783497
Map	rs587783497
PheGenI	rs587783497
Biobank	rs587783497
1000 genomes	rs587783497
hgdp	rs587783497
ensembl	rs587783497
geneview	rs587783497
scholar	rs587783497
google	rs587783497
pharmgkb	rs587783497
gwascentral	rs587783497
openSNP	rs587783497
23andMe	rs587783497
SNPshot	rs587783497
SNPdbe	rs587783497
MSV3d	rs587783497
GWAS Ctlg	rs587783497

Max Magnitude

0

ClinVar
Risk	rs587783497(G;G)
Alt	rs587783497(G;G)
Reference	Rs587783497(A;A)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3786703T>C
CLNSRC
CLNACC	RCV000145757.1,