rs587783476

Orientation

minus

Stabilized

minus

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

Make rs587783476(C;T)

Make rs587783476(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3850809

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783476
dbSNP (classic)	rs587783476
ClinGen	rs587783476
ebi	rs587783476
HLI	rs587783476
Exac	rs587783476
Gnomad	rs587783476
Varsome	rs587783476
LitVar	rs587783476
Map	rs587783476
PheGenI	rs587783476
Biobank	rs587783476
1000 genomes	rs587783476
hgdp	rs587783476
ensembl	rs587783476
geneview	rs587783476
scholar	rs587783476
google	rs587783476
pharmgkb	rs587783476
gwascentral	rs587783476
openSNP	rs587783476
23andMe	rs587783476
SNPshot	rs587783476
SNPdbe	rs587783476
MSV3d	rs587783476
GWAS Ctlg	rs587783476

Max Magnitude

0

ClinVar
Risk	rs587783476(T;T)
Alt	rs587783476(T;T)
Reference	Rs587783476(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3900810G>A
CLNSRC
CLNACC	RCV000145732.1,