rs121909194

Orientation

minus

Stabilized

minus

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

Make rs121909194(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

171636302

Gene

MYOC

is a	snp
is	mentioned by
dbSNP	rs121909194
dbSNP (classic)	rs121909194
ClinGen	rs121909194
ebi	rs121909194
HLI	rs121909194
Exac	rs121909194
Gnomad	rs121909194
Varsome	rs121909194
LitVar	rs121909194
Map	rs121909194
PheGenI	rs121909194
Biobank	rs121909194
1000 genomes	rs121909194
hgdp	rs121909194
ensembl	rs121909194
geneview	rs121909194
scholar	rs121909194
google	rs121909194
pharmgkb	rs121909194
gwascentral	rs121909194
openSNP	rs121909194
23andMe	rs121909194
SNPshot	rs121909194
SNPdbe	rs121909194
MSV3d	rs121909194
GWAS Ctlg	rs121909194

Max Magnitude

4.8

c.1138G>C (p.Asp380His)

23andMe name: i5007120

ClinVar
Risk	rs121909194(C;C)
Alt	rs121909194(C;C)
Reference	Rs121909194(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.171605442C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008425.2,