rs797045485

Orientation

minus

Stabilized

minus

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

Make rs797045485(-;C)

Make rs797045485(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

3770639

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs797045485
dbSNP (classic)	rs797045485
ClinGen	rs797045485
ebi	rs797045485
HLI	rs797045485
Exac	rs797045485
Gnomad	rs797045485
Varsome	rs797045485
LitVar	rs797045485
Map	rs797045485
PheGenI	rs797045485
Biobank	rs797045485
1000 genomes	rs797045485
hgdp	rs797045485
ensembl	rs797045485
geneview	rs797045485
scholar	rs797045485
google	rs797045485
pharmgkb	rs797045485
gwascentral	rs797045485
openSNP	rs797045485
23andMe	rs797045485
SNPshot	rs797045485
SNPdbe	rs797045485
MSV3d	rs797045485
GWAS Ctlg	rs797045485

Max Magnitude

0

ClinVar
Risk	rs797045485(C;C)
Alt	rs797045485(C;C)
Reference	Rs797045485(-;-)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3820641dupG
CLNSRC
CLNACC	RCV000194548.1,