rs74315339

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	4.8	Primary open-angle glaucoma

Make rs74315339(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171652468

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315339
dbSNP (classic)	rs74315339
ClinGen	rs74315339
ebi	rs74315339
HLI	rs74315339
Exac	rs74315339
Gnomad	rs74315339
Varsome	rs74315339
LitVar	rs74315339
Map	rs74315339
PheGenI	rs74315339
Biobank	rs74315339
1000 genomes	rs74315339
hgdp	rs74315339
ensembl	rs74315339
geneview	rs74315339
scholar	rs74315339
google	rs74315339
pharmgkb	rs74315339
gwascentral	rs74315339
openSNP	rs74315339
23andMe	rs74315339
SNPshot	rs74315339
SNPdbe	rs74315339
MSV3d	rs74315339
GWAS Ctlg	rs74315339

Max Magnitude

4.8

OMIM	601652
Desc
Variant	0014
Related	also

ClinVar
Risk	rs74315339(T;T)
Alt	rs74315339(T;T)
Reference	Rs74315339(G;G)
Significance	Pathogenic
Disease	Primary open angle glaucoma juvenile onset 1 Glaucoma 3 MYOC-Related Disorders
Variation	info
Gene	MYOC
CLNDBN	Primary open angle glaucoma juvenile onset 1 Glaucoma 3, primary congenital, a, digenic MYOC-Related Disorders
Reversed	1
HGVS	NC_000001.10:g.171621608C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008421.2, RCV000008422.2, RCV000296614.1,