rs74315337

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a glaucoma-related mutation
(T;T)	4.8	Reported to be recessive genotype leading to primary open angle glaucoma

Reference

GRCh38 38.1/142

Chromosome

1

Position

171652476

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315337
dbSNP (classic)	rs74315337
ClinGen	rs74315337
ebi	rs74315337
HLI	rs74315337
Exac	rs74315337
Gnomad	rs74315337
Varsome	rs74315337
LitVar	rs74315337
Map	rs74315337
PheGenI	rs74315337
Biobank	rs74315337
1000 genomes	rs74315337
hgdp	rs74315337
ensembl	rs74315337
geneview	rs74315337
scholar	rs74315337
google	rs74315337
pharmgkb	rs74315337
gwascentral	rs74315337
openSNP	rs74315337
23andMe	rs74315337
SNPshot	rs74315337
SNPdbe	rs74315337
MSV3d	rs74315337
GWAS Ctlg	rs74315337

GMAF

0.002296

Max Magnitude

4.8

c.136C>T (p.Arg46Ter)

23andMe name: i5007115

OMIM	601652
Desc
Variant	0011
Related	also

ClinVar
Risk	rs74315337(A;A) rs74315337(G;G) Rs74315337(T;T)
Alt	rs74315337(A;A) rs74315337(G;G) Rs74315337(T;T)
Reference	Rs74315337(C;C)
Significance	Pathogenic
Disease	Glaucoma 1
Variation	info
Gene	MYOC
CLNDBN	Glaucoma 1, open angle, a, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.171621616G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008418.2,