rs74315338

Orientation

minus

Stabilized

minus

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

Make rs74315338(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171636143

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315338
dbSNP (classic)	rs74315338
ClinGen	rs74315338
ebi	rs74315338
HLI	rs74315338
Exac	rs74315338
Gnomad	rs74315338
Varsome	rs74315338
LitVar	rs74315338
Map	rs74315338
PheGenI	rs74315338
Biobank	rs74315338
1000 genomes	rs74315338
hgdp	rs74315338
ensembl	rs74315338
geneview	rs74315338
scholar	rs74315338
google	rs74315338
pharmgkb	rs74315338
gwascentral	rs74315338
openSNP	rs74315338
23andMe	rs74315338
SNPshot	rs74315338
SNPdbe	rs74315338
MSV3d	rs74315338
GWAS Ctlg	rs74315338

Max Magnitude

4.8

c.1297T>C (p.Cys433Arg)

23andMe name: i5007116

OMIM	601652
Desc
Variant	0012
Related	also

ClinVar
Risk	rs74315338(C;C)
Alt	rs74315338(C;C)
Reference	Rs74315338(T;T)
Significance	Pathogenic
Disease	Primary open angle glaucoma juvenile onset 1
Variation	info
Gene	MYOC
CLNDBN	Primary open angle glaucoma juvenile onset 1
Reversed	1
HGVS	NC_000001.10:g.171605283A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008419.4,