rs797045483

Orientation

minus

Stabilized

minus

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

Make rs797045483(-;C)

Make rs797045483(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

3774673

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs797045483
dbSNP (classic)	rs797045483
ClinGen	rs797045483
ebi	rs797045483
HLI	rs797045483
Exac	rs797045483
Gnomad	rs797045483
Varsome	rs797045483
LitVar	rs797045483
Map	rs797045483
PheGenI	rs797045483
Biobank	rs797045483
1000 genomes	rs797045483
hgdp	rs797045483
ensembl	rs797045483
geneview	rs797045483
scholar	rs797045483
google	rs797045483
pharmgkb	rs797045483
gwascentral	rs797045483
openSNP	rs797045483
23andMe	rs797045483
SNPshot	rs797045483
SNPdbe	rs797045483
MSV3d	rs797045483
GWAS Ctlg	rs797045483

Max Magnitude

0

ClinVar
Risk	rs797045483(C;C)
Alt	rs797045483(C;C)
Reference	Rs797045483(-;-)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3824675dupG
CLNSRC
CLNACC	RCV000192496.1,