rs587783467

Orientation

minus

Stabilized

minus

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

Make rs587783467(-;-)

Make rs587783467(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3780734

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783467
dbSNP (classic)	rs587783467
ClinGen	rs587783467
ebi	rs587783467
HLI	rs587783467
Exac	rs587783467
Gnomad	rs587783467
Varsome	rs587783467
LitVar	rs587783467
Map	rs587783467
PheGenI	rs587783467
Biobank	rs587783467
1000 genomes	rs587783467
hgdp	rs587783467
ensembl	rs587783467
geneview	rs587783467
scholar	rs587783467
google	rs587783467
pharmgkb	rs587783467
gwascentral	rs587783467
openSNP	rs587783467
23andMe	rs587783467
SNPshot	rs587783467
SNPdbe	rs587783467
MSV3d	rs587783467
GWAS Ctlg	rs587783467

Max Magnitude

0

ClinVar
Risk	rs587783467(-;-)
Alt	rs587783467(-;-)
Reference	Rs587783467(A;A)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3830735delT
CLNSRC
CLNACC	RCV000145719.1,