rs587783464

Orientation

minus

Stabilized

minus

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

Make rs587783464(C;T)

Make rs587783464(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3792041

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783464
dbSNP (classic)	rs587783464
ClinGen	rs587783464
ebi	rs587783464
HLI	rs587783464
Exac	rs587783464
Gnomad	rs587783464
Varsome	rs587783464
LitVar	rs587783464
Map	rs587783464
PheGenI	rs587783464
Biobank	rs587783464
1000 genomes	rs587783464
hgdp	rs587783464
ensembl	rs587783464
geneview	rs587783464
scholar	rs587783464
google	rs587783464
pharmgkb	rs587783464
gwascentral	rs587783464
openSNP	rs587783464
23andMe	rs587783464
SNPshot	rs587783464
SNPdbe	rs587783464
MSV3d	rs587783464
GWAS Ctlg	rs587783464

Max Magnitude

0

ClinVar
Risk	rs587783464(T;T)
Alt	rs587783464(T;T)
Reference	Rs587783464(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3842042G>A
CLNSRC
CLNACC	RCV000145716.1,