rs587783475

Orientation

minus

Stabilized

minus

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

Make rs587783475(C;T)

Make rs587783475(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3770659

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783475
dbSNP (classic)	rs587783475
ClinGen	rs587783475
ebi	rs587783475
HLI	rs587783475
Exac	rs587783475
Gnomad	rs587783475
Varsome	rs587783475
LitVar	rs587783475
Map	rs587783475
PheGenI	rs587783475
Biobank	rs587783475
1000 genomes	rs587783475
hgdp	rs587783475
ensembl	rs587783475
geneview	rs587783475
scholar	rs587783475
google	rs587783475
pharmgkb	rs587783475
gwascentral	rs587783475
openSNP	rs587783475
23andMe	rs587783475
SNPshot	rs587783475
SNPdbe	rs587783475
MSV3d	rs587783475
GWAS Ctlg	rs587783475

Max Magnitude

0

ClinVar
Risk	rs587783475(T;T)
Alt	rs587783475(T;T)
Reference	Rs587783475(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3820660G>A
CLNSRC
CLNACC	RCV000145730.1,