rs797045498

Orientation

minus

Stabilized

minus

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

Make rs797045498(-;T)

Make rs797045498(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

3729110

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs797045498
dbSNP (classic)	rs797045498
ClinGen	rs797045498
ebi	rs797045498
HLI	rs797045498
Exac	rs797045498
Gnomad	rs797045498
Varsome	rs797045498
LitVar	rs797045498
Map	rs797045498
PheGenI	rs797045498
Biobank	rs797045498
1000 genomes	rs797045498
hgdp	rs797045498
ensembl	rs797045498
geneview	rs797045498
scholar	rs797045498
google	rs797045498
pharmgkb	rs797045498
gwascentral	rs797045498
openSNP	rs797045498
23andMe	rs797045498
SNPshot	rs797045498
SNPdbe	rs797045498
MSV3d	rs797045498
GWAS Ctlg	rs797045498

Max Magnitude

0

ClinVar
Risk	rs797045498(T;T)
Alt	rs797045498(T;T)
Reference	Rs797045498(-;-)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3779111_3779112insA
CLNSRC
CLNACC	RCV000193252.1,