rs587783480

Orientation

minus

Stabilized

minus

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

Make rs587783480(G;T)

Make rs587783480(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3758853

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783480
dbSNP (classic)	rs587783480
ClinGen	rs587783480
ebi	rs587783480
HLI	rs587783480
Exac	rs587783480
Gnomad	rs587783480
Varsome	rs587783480
LitVar	rs587783480
Map	rs587783480
PheGenI	rs587783480
Biobank	rs587783480
1000 genomes	rs587783480
hgdp	rs587783480
ensembl	rs587783480
geneview	rs587783480
scholar	rs587783480
google	rs587783480
pharmgkb	rs587783480
gwascentral	rs587783480
openSNP	rs587783480
23andMe	rs587783480
SNPshot	rs587783480
SNPdbe	rs587783480
MSV3d	rs587783480
GWAS Ctlg	rs587783480

Max Magnitude

0

ClinVar
Risk	rs587783480(T;T)
Alt	rs587783480(T;T)
Reference	Rs587783480(G;G)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3808854C>A
CLNSRC
CLNACC	RCV000145736.1,