rs1057519012

Orientation

plus

Stabilized

plus

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

Make rs1057519012(-;G)

Make rs1057519012(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

41147866

Gene

EP300

is a	snp
is	mentioned by
dbSNP	rs1057519012
dbSNP (classic)	rs1057519012
ClinGen	rs1057519012
ebi	rs1057519012
HLI	rs1057519012
Exac	rs1057519012
Gnomad	rs1057519012
Varsome	rs1057519012
LitVar	rs1057519012
Map	rs1057519012
PheGenI	rs1057519012
Biobank	rs1057519012
1000 genomes	rs1057519012
hgdp	rs1057519012
ensembl	rs1057519012
geneview	rs1057519012
scholar	rs1057519012
google	rs1057519012
pharmgkb	rs1057519012
gwascentral	rs1057519012
openSNP	rs1057519012
23andMe	rs1057519012
SNPshot	rs1057519012
SNPdbe	rs1057519012
MSV3d	rs1057519012
GWAS Ctlg	rs1057519012

Max Magnitude

0

ClinVar
Risk	rs1057519012(G;G)
Alt	rs1057519012(G;G)
Reference	Rs1057519012(-;-)
Significance	Probable-Pathogenic
Disease	Microcephaly intellectual deficiency
Variation	info
Gene	EP300
CLNDBN	Microcephaly intellectual deficiency
Reversed	0
HGVS	NC_000022.10:g.41543870dupG
CLNSRC
CLNACC	RCV000415048.1,