rs587783481

Orientation

minus

Stabilized

minus

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

Make rs587783481(A;G)

Make rs587783481(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3757918

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783481
dbSNP (classic)	rs587783481
ClinGen	rs587783481
ebi	rs587783481
HLI	rs587783481
Exac	rs587783481
Gnomad	rs587783481
Varsome	rs587783481
LitVar	rs587783481
Map	rs587783481
PheGenI	rs587783481
Biobank	rs587783481
1000 genomes	rs587783481
hgdp	rs587783481
ensembl	rs587783481
geneview	rs587783481
scholar	rs587783481
google	rs587783481
pharmgkb	rs587783481
gwascentral	rs587783481
openSNP	rs587783481
23andMe	rs587783481
SNPshot	rs587783481
SNPdbe	rs587783481
MSV3d	rs587783481
GWAS Ctlg	rs587783481

Max Magnitude

0

ClinVar
Risk	rs587783481(G;G)
Alt	rs587783481(G;G)
Reference	Rs587783481(A;A)
Significance	Probable-Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3807919T>C
CLNSRC
CLNACC	RCV000145737.1,