rs11258194

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common on affy axiom data

Make rs11258194(A;A)

Make rs11258194(A;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

13110400

Gene

OPTN

is a	snp
is	mentioned by
dbSNP	rs11258194
dbSNP (classic)	rs11258194
ClinGen	rs11258194
ebi	rs11258194
HLI	rs11258194
Exac	rs11258194
Gnomad	rs11258194
Varsome	rs11258194
LitVar	rs11258194
Map	rs11258194
PheGenI	rs11258194
Biobank	rs11258194
1000 genomes	rs11258194
hgdp	rs11258194
ensembl	rs11258194
geneview	rs11258194
scholar	rs11258194
google	rs11258194
pharmgkb	rs11258194
gwascentral	rs11258194
openSNP	rs11258194
23andMe	rs11258194
SNPshot	rs11258194
SNPdbe	rs11258194
MSV3d	rs11258194
GWAS Ctlg	rs11258194

GMAF

0.06795

Max Magnitude

0

OMIM	602432
Desc	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
Variant	0004
Related	also

ClinVar
Risk	rs11258194(A;A)
Alt	rs11258194(A;A)
Reference	Rs11258194(T;T)
Significance	Other
Disease	Glaucoma Glaucoma 1 not specified Primary open angle glaucoma Amyotrophic Lateral Sclerosis
Variation	info
Gene	OPTN
CLNDBN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, e not specified Primary open angle glaucoma Amyotrophic Lateral Sclerosis, Recessive
Reversed	0
HGVS	NC_000010.10:g.13152400T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007516.4, RCV000007517.4, RCV000177328.2, RCV000269750.1, RCV000324769.1,