rs1057521737

Orientation

plus

Stabilized

plus

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

Make rs1057521737(C;C)

Make rs1057521737(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

41173768

Gene

EP300

is a	snp
is	mentioned by
dbSNP	rs1057521737
dbSNP (classic)	rs1057521737
ClinGen	rs1057521737
ebi	rs1057521737
HLI	rs1057521737
Exac	rs1057521737
Gnomad	rs1057521737
Varsome	rs1057521737
LitVar	rs1057521737
Map	rs1057521737
PheGenI	rs1057521737
Biobank	rs1057521737
1000 genomes	rs1057521737
hgdp	rs1057521737
ensembl	rs1057521737
geneview	rs1057521737
scholar	rs1057521737
google	rs1057521737
pharmgkb	rs1057521737
gwascentral	rs1057521737
openSNP	rs1057521737
23andMe	rs1057521737
SNPshot	rs1057521737
SNPdbe	rs1057521737
MSV3d	rs1057521737
GWAS Ctlg	rs1057521737

Max Magnitude

0

ClinVar
Risk	rs1057521737(C;C)
Alt	rs1057521737(C;C)
Reference	Rs1057521737(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.41569772T>C
CLNSRC
CLNACC	RCV000433287.1, RCV000454987.1,