rs794727391

Orientation

minus

Stabilized

minus

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

Make rs794727391(-;-)

Make rs794727391(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

3740539

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs794727391
dbSNP (classic)	rs794727391
ClinGen	rs794727391
ebi	rs794727391
HLI	rs794727391
Exac	rs794727391
Gnomad	rs794727391
Varsome	rs794727391
LitVar	rs794727391
Map	rs794727391
PheGenI	rs794727391
Biobank	rs794727391
1000 genomes	rs794727391
hgdp	rs794727391
ensembl	rs794727391
geneview	rs794727391
scholar	rs794727391
google	rs794727391
pharmgkb	rs794727391
gwascentral	rs794727391
openSNP	rs794727391
23andMe	rs794727391
SNPshot	rs794727391
SNPdbe	rs794727391
MSV3d	rs794727391
GWAS Ctlg	rs794727391

Max Magnitude

0

ClinVar
Risk	rs794727391(-;-)
Alt	rs794727391(-;-)
Reference	Rs794727391(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790540delG
CLNSRC
CLNACC	RCV000176482.1,