rs797045559

Orientation

plus

Stabilized

plus

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

Make rs797045559(-;T)

Make rs797045559(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

41176303

Gene

EP300

is a	snp
is	mentioned by
dbSNP	rs797045559
dbSNP (classic)	rs797045559
ClinGen	rs797045559
ebi	rs797045559
HLI	rs797045559
Exac	rs797045559
Gnomad	rs797045559
Varsome	rs797045559
LitVar	rs797045559
Map	rs797045559
PheGenI	rs797045559
Biobank	rs797045559
1000 genomes	rs797045559
hgdp	rs797045559
ensembl	rs797045559
geneview	rs797045559
scholar	rs797045559
google	rs797045559
pharmgkb	rs797045559
gwascentral	rs797045559
openSNP	rs797045559
23andMe	rs797045559
SNPshot	rs797045559
SNPdbe	rs797045559
MSV3d	rs797045559
GWAS Ctlg	rs797045559

Max Magnitude

0

ClinVar
Risk	rs797045559(T;T)
Alt	rs797045559(T;T)
Reference	Rs797045559(-;-)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome 2
Variation	info
Gene	EP300
CLNDBN	Rubinstein-Taybi syndrome 2
Reversed	0
HGVS	NC_000022.10:g.41572307dupT
CLNSRC
CLNACC	RCV000194142.1,