rs587783509

Orientation

minus

Stabilized

minus

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

Make rs587783509(C;T)

Make rs587783509(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3850497

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783509
dbSNP (classic)	rs587783509
ClinGen	rs587783509
ebi	rs587783509
HLI	rs587783509
Exac	rs587783509
Gnomad	rs587783509
Varsome	rs587783509
LitVar	rs587783509
Map	rs587783509
PheGenI	rs587783509
Biobank	rs587783509
1000 genomes	rs587783509
hgdp	rs587783509
ensembl	rs587783509
geneview	rs587783509
scholar	rs587783509
google	rs587783509
pharmgkb	rs587783509
gwascentral	rs587783509
openSNP	rs587783509
23andMe	rs587783509
SNPshot	rs587783509
SNPdbe	rs587783509
MSV3d	rs587783509
GWAS Ctlg	rs587783509

Max Magnitude

0

ClinVar
Risk	rs587783509(T;T)
Alt	rs587783509(T;T)
Reference	Rs587783509(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3900498G>A
CLNSRC
CLNACC	RCV000145774.1,