rs587783479

Orientation

minus

Stabilized

minus

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

Make rs587783479(C;T)

Make rs587783479(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3758913

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783479
dbSNP (classic)	rs587783479
ClinGen	rs587783479
ebi	rs587783479
HLI	rs587783479
Exac	rs587783479
Gnomad	rs587783479
Varsome	rs587783479
LitVar	rs587783479
Map	rs587783479
PheGenI	rs587783479
Biobank	rs587783479
1000 genomes	rs587783479
hgdp	rs587783479
ensembl	rs587783479
geneview	rs587783479
scholar	rs587783479
google	rs587783479
pharmgkb	rs587783479
gwascentral	rs587783479
openSNP	rs587783479
23andMe	rs587783479
SNPshot	rs587783479
SNPdbe	rs587783479
MSV3d	rs587783479
GWAS Ctlg	rs587783479

Max Magnitude

0

ClinVar
Risk	rs587783479(T;T)
Alt	rs587783479(T;T)
Reference	Rs587783479(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3808914G>A
CLNSRC
CLNACC	RCV000145735.1,