rs74315340

Orientation

minus

Stabilized

minus

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

Make rs74315340(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171636706

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315340
dbSNP (classic)	rs74315340
ClinGen	rs74315340
ebi	rs74315340
HLI	rs74315340
Exac	rs74315340
Gnomad	rs74315340
Varsome	rs74315340
LitVar	rs74315340
Map	rs74315340
PheGenI	rs74315340
Biobank	rs74315340
1000 genomes	rs74315340
hgdp	rs74315340
ensembl	rs74315340
geneview	rs74315340
scholar	rs74315340
google	rs74315340
pharmgkb	rs74315340
gwascentral	rs74315340
openSNP	rs74315340
23andMe	rs74315340
SNPshot	rs74315340
SNPdbe	rs74315340
MSV3d	rs74315340
GWAS Ctlg	rs74315340

Max Magnitude

4.8

c.734G>A (p.Cys245Tyr)

23andMe name: i5007118

OMIM	601652
Desc
Variant	0015
Related	also

ClinVar
Risk	rs74315340(A;A)
Alt	rs74315340(A;A)
Reference	Rs74315340(G;G)
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.171605846C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008423.2,