rs1057517732

Orientation

plus

Stabilized

plus

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

Make rs1057517732(G;G)

Make rs1057517732(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

41176250

Gene

EP300

is a	snp
is	mentioned by
dbSNP	rs1057517732
dbSNP (classic)	rs1057517732
ClinGen	rs1057517732
ebi	rs1057517732
HLI	rs1057517732
Exac	rs1057517732
Gnomad	rs1057517732
Varsome	rs1057517732
LitVar	rs1057517732
Map	rs1057517732
PheGenI	rs1057517732
Biobank	rs1057517732
1000 genomes	rs1057517732
hgdp	rs1057517732
ensembl	rs1057517732
geneview	rs1057517732
scholar	rs1057517732
google	rs1057517732
pharmgkb	rs1057517732
gwascentral	rs1057517732
openSNP	rs1057517732
23andMe	rs1057517732
SNPshot	rs1057517732
SNPdbe	rs1057517732
MSV3d	rs1057517732
GWAS Ctlg	rs1057517732

Max Magnitude

0

ClinVar
Risk	rs1057517732(G;G)
Alt	rs1057517732(G;G)
Reference	Rs1057517732(T;T)
Significance	Pathogenic
Disease	not provided Rubinstein-Taybi syndrome 2
Variation	info
Gene	EP300
CLNDBN	not provided Rubinstein-Taybi syndrome 2
Reversed	0
HGVS	NC_000022.10:g.41572254T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000414599.1, RCV000433095.1,