rs1057518002

Orientation

plus

Stabilized

plus

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

Make rs1057518002(C;C)

Make rs1057518002(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

41177194

Gene

EP300

is a	snp
is	mentioned by
dbSNP	rs1057518002
dbSNP (classic)	rs1057518002
ClinGen	rs1057518002
ebi	rs1057518002
HLI	rs1057518002
Exac	rs1057518002
Gnomad	rs1057518002
Varsome	rs1057518002
LitVar	rs1057518002
Map	rs1057518002
PheGenI	rs1057518002
Biobank	rs1057518002
1000 genomes	rs1057518002
hgdp	rs1057518002
ensembl	rs1057518002
geneview	rs1057518002
scholar	rs1057518002
google	rs1057518002
pharmgkb	rs1057518002
gwascentral	rs1057518002
openSNP	rs1057518002
23andMe	rs1057518002
SNPshot	rs1057518002
SNPdbe	rs1057518002
MSV3d	rs1057518002
GWAS Ctlg	rs1057518002

Max Magnitude

0

ClinVar
Risk	rs1057518002(C;C)
Alt	rs1057518002(C;C)
Reference	Rs1057518002(T;T)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	EP300
CLNDBN	not provided
Reversed	0
HGVS	NC_000022.10:g.41573198T>C
CLNSRC
CLNACC	RCV000414170.1,