rs201253919

Orientation

plus

Stabilized

plus

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

Make rs201253919(A;A)

Make rs201253919(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

52383437

Gene

ORC1

is a	snp
is	mentioned by
dbSNP	rs201253919
dbSNP (classic)	rs201253919
ClinGen	rs201253919
ebi	rs201253919
HLI	rs201253919
Exac	rs201253919
Gnomad	rs201253919
Varsome	rs201253919
LitVar	rs201253919
Map	rs201253919
PheGenI	rs201253919
Biobank	rs201253919
1000 genomes	rs201253919
hgdp	rs201253919
ensembl	rs201253919
geneview	rs201253919
scholar	rs201253919
google	rs201253919
pharmgkb	rs201253919
gwascentral	rs201253919
openSNP	rs201253919
23andMe	rs201253919
SNPshot	rs201253919
SNPdbe	rs201253919
MSV3d	rs201253919
GWAS Ctlg	rs201253919

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs201253919(A;A)
Alt	rs201253919(A;A)
Reference	Rs201253919(G;G)
Significance	Pathogenic
Disease	Meier-Gorlin syndrome 1
Variation	info
Gene	ORC1
CLNDBN	Meier-Gorlin syndrome 1
Reversed	0
HGVS	NC_000001.10:g.52849109G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023160.3,