rs74315335

Orientation

minus

Stabilized

minus

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

Make rs74315335(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171636430

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315335
dbSNP (classic)	rs74315335
ClinGen	rs74315335
ebi	rs74315335
HLI	rs74315335
Exac	rs74315335
Gnomad	rs74315335
Varsome	rs74315335
LitVar	rs74315335
Map	rs74315335
PheGenI	rs74315335
Biobank	rs74315335
1000 genomes	rs74315335
hgdp	rs74315335
ensembl	rs74315335
geneview	rs74315335
scholar	rs74315335
google	rs74315335
pharmgkb	rs74315335
gwascentral	rs74315335
openSNP	rs74315335
23andMe	rs74315335
SNPshot	rs74315335
SNPdbe	rs74315335
MSV3d	rs74315335
GWAS Ctlg	rs74315335

Max Magnitude

4.8

c.1010A>G (p.Gln337Arg)

23andMe name: i5007113

OMIM	601652
Desc
Variant	0009
Related	also

ClinVar
Risk	rs74315335(G;G)
Alt	rs74315335(G;G)
Reference	Rs74315335(A;A)
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.171605570T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008416.3,