rs147688139

Orientation

plus

Stabilized

plus

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

Make rs147688139(A;G)

Make rs147688139(G;G)

Reference

GRCh38 38.1/142

Chromosome

16

Position

3736812

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs147688139
dbSNP (classic)	rs147688139
ClinGen	rs147688139
ebi	rs147688139
HLI	rs147688139
Exac	rs147688139
Gnomad	rs147688139
Varsome	rs147688139
LitVar	rs147688139
Map	rs147688139
PheGenI	rs147688139
Biobank	rs147688139
1000 genomes	rs147688139
hgdp	rs147688139
ensembl	rs147688139
geneview	rs147688139
scholar	rs147688139
google	rs147688139
pharmgkb	rs147688139
gwascentral	rs147688139
openSNP	rs147688139
23andMe	rs147688139
SNPshot	rs147688139
SNPdbe	rs147688139
MSV3d	rs147688139
GWAS Ctlg	rs147688139

Max Magnitude

0

ClinVar
Risk	rs147688139(G;G) rs147688139(T;T)
Alt	rs147688139(G;G) rs147688139(T;T)
Reference	Rs147688139(A;A)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	0
HGVS	NC_000016.9:g.3786813A>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000145754.1,