rs587783471

Orientation

minus

Stabilized

minus

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

Make rs587783471(A;A)

Make rs587783471(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3770915

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783471
dbSNP (classic)	rs587783471
ClinGen	rs587783471
ebi	rs587783471
HLI	rs587783471
Exac	rs587783471
Gnomad	rs587783471
Varsome	rs587783471
LitVar	rs587783471
Map	rs587783471
PheGenI	rs587783471
Biobank	rs587783471
1000 genomes	rs587783471
hgdp	rs587783471
ensembl	rs587783471
geneview	rs587783471
scholar	rs587783471
google	rs587783471
pharmgkb	rs587783471
gwascentral	rs587783471
openSNP	rs587783471
23andMe	rs587783471
SNPshot	rs587783471
SNPdbe	rs587783471
MSV3d	rs587783471
GWAS Ctlg	rs587783471

Max Magnitude

0

ClinVar
Risk	rs587783471(A;A)
Alt	rs587783471(A;A)
Reference	Rs587783471(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3820916G>T
CLNSRC
CLNACC	RCV000145724.1,