rs587783485

Orientation

minus

Stabilized

minus

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

Make rs587783485(G;T)

Make rs587783485(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3745274

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783485
dbSNP (classic)	rs587783485
ClinGen	rs587783485
ebi	rs587783485
HLI	rs587783485
Exac	rs587783485
Gnomad	rs587783485
Varsome	rs587783485
LitVar	rs587783485
Map	rs587783485
PheGenI	rs587783485
Biobank	rs587783485
1000 genomes	rs587783485
hgdp	rs587783485
ensembl	rs587783485
geneview	rs587783485
scholar	rs587783485
google	rs587783485
pharmgkb	rs587783485
gwascentral	rs587783485
openSNP	rs587783485
23andMe	rs587783485
SNPshot	rs587783485
SNPdbe	rs587783485
MSV3d	rs587783485
GWAS Ctlg	rs587783485

Max Magnitude

0

ClinVar
Risk	rs587783485(A;A) rs587783485(T;T)
Alt	rs587783485(A;A) rs587783485(T;T)
Reference	Rs587783485(G;G)
Significance	Probable-Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3795275C>A
CLNSRC
CLNACC	RCV000145743.1,