rs74315330

Orientation

minus

Stabilized

minus

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

Make rs74315330(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171636331

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315330
dbSNP (classic)	rs74315330
ClinGen	rs74315330
ebi	rs74315330
HLI	rs74315330
Exac	rs74315330
Gnomad	rs74315330
Varsome	rs74315330
LitVar	rs74315330
Map	rs74315330
PheGenI	rs74315330
Biobank	rs74315330
1000 genomes	rs74315330
hgdp	rs74315330
ensembl	rs74315330
geneview	rs74315330
scholar	rs74315330
google	rs74315330
pharmgkb	rs74315330
gwascentral	rs74315330
openSNP	rs74315330
23andMe	rs74315330
SNPshot	rs74315330
SNPdbe	rs74315330
MSV3d	rs74315330
GWAS Ctlg	rs74315330

Max Magnitude

4.8

c.1109C>T (p.Pro370Leu)

23andMe name: i5007109

OMIM	601652
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315330(T;T)
Alt	rs74315330(T;T)
Reference	Rs74315330(C;C)
Significance	Pathogenic
Disease	Primary open angle glaucoma juvenile onset 1 not provided
Variation	info
Gene	MYOC
CLNDBN	Primary open angle glaucoma juvenile onset 1 not provided
Reversed	1
HGVS	NC_000001.10:g.171605471G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008411.2, RCV000255144.1,

[PMID 17417611] Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.