rs587783503

Orientation

minus

Stabilized

minus

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

Make rs587783503(C;C)

Make rs587783503(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3731314

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783503
dbSNP (classic)	rs587783503
ClinGen	rs587783503
ebi	rs587783503
HLI	rs587783503
Exac	rs587783503
Gnomad	rs587783503
Varsome	rs587783503
LitVar	rs587783503
Map	rs587783503
PheGenI	rs587783503
Biobank	rs587783503
1000 genomes	rs587783503
hgdp	rs587783503
ensembl	rs587783503
geneview	rs587783503
scholar	rs587783503
google	rs587783503
pharmgkb	rs587783503
gwascentral	rs587783503
openSNP	rs587783503
23andMe	rs587783503
SNPshot	rs587783503
SNPdbe	rs587783503
MSV3d	rs587783503
GWAS Ctlg	rs587783503

Max Magnitude

0

ClinVar
Risk	rs587783503(C;C)
Alt	rs587783503(C;C)
Reference	Rs587783503(T;T)
Significance	Probable-Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3781315A>G
CLNSRC
CLNACC	RCV000145765.1,