rs587783460

Orientation

minus

Stabilized

minus

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

Make rs587783460(C;T)

Make rs587783460(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3793539

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783460
dbSNP (classic)	rs587783460
ClinGen	rs587783460
ebi	rs587783460
HLI	rs587783460
Exac	rs587783460
Gnomad	rs587783460
Varsome	rs587783460
LitVar	rs587783460
Map	rs587783460
PheGenI	rs587783460
Biobank	rs587783460
1000 genomes	rs587783460
hgdp	rs587783460
ensembl	rs587783460
geneview	rs587783460
scholar	rs587783460
google	rs587783460
pharmgkb	rs587783460
gwascentral	rs587783460
openSNP	rs587783460
23andMe	rs587783460
SNPshot	rs587783460
SNPdbe	rs587783460
MSV3d	rs587783460
GWAS Ctlg	rs587783460

Max Magnitude

0

ClinVar
Risk	rs587783460(T;T)
Alt	rs587783460(T;T)
Reference	Rs587783460(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3843540G>A
CLNSRC
CLNACC	RCV000145711.1,