rs587783490

Orientation

minus

Stabilized

minus

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

Make rs587783490(C;T)

Make rs587783490(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3740454

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783490
dbSNP (classic)	rs587783490
ClinGen	rs587783490
ebi	rs587783490
HLI	rs587783490
Exac	rs587783490
Gnomad	rs587783490
Varsome	rs587783490
LitVar	rs587783490
Map	rs587783490
PheGenI	rs587783490
Biobank	rs587783490
1000 genomes	rs587783490
hgdp	rs587783490
ensembl	rs587783490
geneview	rs587783490
scholar	rs587783490
google	rs587783490
pharmgkb	rs587783490
gwascentral	rs587783490
openSNP	rs587783490
23andMe	rs587783490
SNPshot	rs587783490
SNPdbe	rs587783490
MSV3d	rs587783490
GWAS Ctlg	rs587783490

Max Magnitude

0

ClinVar
Risk	rs587783490(T;T)
Alt	rs587783490(T;T)
Reference	Rs587783490(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790455G>A
CLNSRC
CLNACC	RCV000145748.1,