rs587783505

Orientation

minus

Stabilized

minus

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

Make rs587783505(C;T)

Make rs587783505(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3729226

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783505
dbSNP (classic)	rs587783505
ClinGen	rs587783505
ebi	rs587783505
HLI	rs587783505
Exac	rs587783505
Gnomad	rs587783505
Varsome	rs587783505
LitVar	rs587783505
Map	rs587783505
PheGenI	rs587783505
Biobank	rs587783505
1000 genomes	rs587783505
hgdp	rs587783505
ensembl	rs587783505
geneview	rs587783505
scholar	rs587783505
google	rs587783505
pharmgkb	rs587783505
gwascentral	rs587783505
openSNP	rs587783505
23andMe	rs587783505
SNPshot	rs587783505
SNPdbe	rs587783505
MSV3d	rs587783505
GWAS Ctlg	rs587783505

Max Magnitude

0

ClinVar
Risk	rs587783505(T;T)
Alt	rs587783505(T;T)
Reference	Rs587783505(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3779227G>A
CLNSRC
CLNACC	RCV000145769.1,