rs587783506

Orientation

minus

Stabilized

minus

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

Make rs587783506(-;-)

Make rs587783506(-;CCCCACCCCCG)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3729203

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783506
dbSNP (classic)	rs587783506
ClinGen	rs587783506
ebi	rs587783506
HLI	rs587783506
Exac	rs587783506
Gnomad	rs587783506
Varsome	rs587783506
LitVar	rs587783506
Map	rs587783506
PheGenI	rs587783506
Biobank	rs587783506
1000 genomes	rs587783506
hgdp	rs587783506
ensembl	rs587783506
geneview	rs587783506
scholar	rs587783506
google	rs587783506
pharmgkb	rs587783506
gwascentral	rs587783506
openSNP	rs587783506
23andMe	rs587783506
SNPshot	rs587783506
SNPdbe	rs587783506
MSV3d	rs587783506
GWAS Ctlg	rs587783506

Max Magnitude

0

ClinVar
Risk	rs587783506(-;-)
Alt	rs587783506(-;-)
Reference	Rs587783506(CCCCACCCCCG;CCCCACCCCCG)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3779204_3779214delCGGGGGTGGGG
CLNSRC
CLNACC	RCV000145771.1,