rs74315336

Orientation

minus

Stabilized

minus

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

Make rs74315336(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171636173

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs74315336
dbSNP (classic)	rs74315336
ClinGen	rs74315336
ebi	rs74315336
HLI	rs74315336
Exac	rs74315336
Gnomad	rs74315336
Varsome	rs74315336
LitVar	rs74315336
Map	rs74315336
PheGenI	rs74315336
Biobank	rs74315336
1000 genomes	rs74315336
hgdp	rs74315336
ensembl	rs74315336
geneview	rs74315336
scholar	rs74315336
google	rs74315336
pharmgkb	rs74315336
gwascentral	rs74315336
openSNP	rs74315336
23andMe	rs74315336
SNPshot	rs74315336
SNPdbe	rs74315336
MSV3d	rs74315336
GWAS Ctlg	rs74315336

Max Magnitude

4.8

c.1267A>G (p.Lys423Glu)

23andMe name: i5007114

OMIM	601652
Desc
Variant	0010
Related	also

ClinVar
Risk	rs74315336(G;G)
Alt	rs74315336(G;G)
Reference	Rs74315336(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.171605313T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008417.4,