rs587783478

Orientation

minus

Stabilized

minus

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

Make rs587783478(C;T)

Make rs587783478(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3850779

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783478
dbSNP (classic)	rs587783478
ClinGen	rs587783478
ebi	rs587783478
HLI	rs587783478
Exac	rs587783478
Gnomad	rs587783478
Varsome	rs587783478
LitVar	rs587783478
Map	rs587783478
PheGenI	rs587783478
Biobank	rs587783478
1000 genomes	rs587783478
hgdp	rs587783478
ensembl	rs587783478
geneview	rs587783478
scholar	rs587783478
google	rs587783478
pharmgkb	rs587783478
gwascentral	rs587783478
openSNP	rs587783478
23andMe	rs587783478
SNPshot	rs587783478
SNPdbe	rs587783478
MSV3d	rs587783478
GWAS Ctlg	rs587783478

Max Magnitude

0

ClinVar
Risk	rs587783478(T;T)
Alt	rs587783478(T;T)
Reference	Rs587783478(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3900780G>A
CLNSRC
CLNACC	RCV000145734.1,