rs587783493

Orientation

minus

Stabilized

minus

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

Make rs587783493(C;G)

Make rs587783493(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3738683

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783493
dbSNP (classic)	rs587783493
ClinGen	rs587783493
ebi	rs587783493
HLI	rs587783493
Exac	rs587783493
Gnomad	rs587783493
Varsome	rs587783493
LitVar	rs587783493
Map	rs587783493
PheGenI	rs587783493
Biobank	rs587783493
1000 genomes	rs587783493
hgdp	rs587783493
ensembl	rs587783493
geneview	rs587783493
scholar	rs587783493
google	rs587783493
pharmgkb	rs587783493
gwascentral	rs587783493
openSNP	rs587783493
23andMe	rs587783493
SNPshot	rs587783493
SNPdbe	rs587783493
MSV3d	rs587783493
GWAS Ctlg	rs587783493

Max Magnitude

0

ClinVar
Risk	rs587783493(G;G)
Alt	rs587783493(G;G)
Reference	Rs587783493(C;C)
Significance	Probable-Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3788684G>C
CLNSRC
CLNACC	RCV000145752.1,