rs587783494

Orientation

minus

Stabilized

minus

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

Make rs587783494(A;G)

Make rs587783494(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3738577

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783494
dbSNP (classic)	rs587783494
ClinGen	rs587783494
ebi	rs587783494
HLI	rs587783494
Exac	rs587783494
Gnomad	rs587783494
Varsome	rs587783494
LitVar	rs587783494
Map	rs587783494
PheGenI	rs587783494
Biobank	rs587783494
1000 genomes	rs587783494
hgdp	rs587783494
ensembl	rs587783494
geneview	rs587783494
scholar	rs587783494
google	rs587783494
pharmgkb	rs587783494
gwascentral	rs587783494
openSNP	rs587783494
23andMe	rs587783494
SNPshot	rs587783494
SNPdbe	rs587783494
MSV3d	rs587783494
GWAS Ctlg	rs587783494

Max Magnitude

0

ClinVar
Risk	rs587783494(G;G)
Alt	rs587783494(G;G)
Reference	Rs587783494(A;A)
Significance	Probable-Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3788578T>C
CLNSRC
CLNACC	RCV000145753.1,