rs797045488

Orientation

minus

Stabilized

minus

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

Make rs797045488(AA;AA)

Make rs797045488(AA;TGCAAGGAG)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

3767885

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs797045488
dbSNP (classic)	rs797045488
ClinGen	rs797045488
ebi	rs797045488
HLI	rs797045488
Exac	rs797045488
Gnomad	rs797045488
Varsome	rs797045488
LitVar	rs797045488
Map	rs797045488
PheGenI	rs797045488
Biobank	rs797045488
1000 genomes	rs797045488
hgdp	rs797045488
ensembl	rs797045488
geneview	rs797045488
scholar	rs797045488
google	rs797045488
pharmgkb	rs797045488
gwascentral	rs797045488
openSNP	rs797045488
23andMe	rs797045488
SNPshot	rs797045488
SNPdbe	rs797045488
MSV3d	rs797045488
GWAS Ctlg	rs797045488

Max Magnitude

0

ClinVar
Risk	rs797045488(AA;AA)
Alt	rs797045488(AA;AA)
Reference	Rs797045488(TGCAAGGAG;TGCAAGGAG)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3817886_3817894delCTCCTTGCAinsTT
CLNSRC
CLNACC	RCV000194630.1,