rs587783491

Orientation

minus

Stabilized

minus

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

Make rs587783491(A;A)

Make rs587783491(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3740398

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783491
dbSNP (classic)	rs587783491
ClinGen	rs587783491
ebi	rs587783491
HLI	rs587783491
Exac	rs587783491
Gnomad	rs587783491
Varsome	rs587783491
LitVar	rs587783491
Map	rs587783491
PheGenI	rs587783491
Biobank	rs587783491
1000 genomes	rs587783491
hgdp	rs587783491
ensembl	rs587783491
geneview	rs587783491
scholar	rs587783491
google	rs587783491
pharmgkb	rs587783491
gwascentral	rs587783491
openSNP	rs587783491
23andMe	rs587783491
SNPshot	rs587783491
SNPdbe	rs587783491
MSV3d	rs587783491
GWAS Ctlg	rs587783491

Max Magnitude

0

ClinVar
Risk	rs587783491(A;A)
Alt	rs587783491(A;A)
Reference	Rs587783491(G;G)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790399C>T
CLNSRC
CLNACC	RCV000145749.1,