rs75654767

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs75654767(A;A)

Make rs75654767(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

13136766

Gene

OPTN

is a	snp
is	mentioned by
dbSNP	rs75654767
dbSNP (classic)	rs75654767
ClinGen	rs75654767
ebi	rs75654767
HLI	rs75654767
Exac	rs75654767
Gnomad	rs75654767
Varsome	rs75654767
LitVar	rs75654767
Map	rs75654767
PheGenI	rs75654767
Biobank	rs75654767
1000 genomes	rs75654767
hgdp	rs75654767
ensembl	rs75654767
geneview	rs75654767
scholar	rs75654767
google	rs75654767
pharmgkb	rs75654767
gwascentral	rs75654767
openSNP	rs75654767
23andMe	rs75654767
SNPshot	rs75654767
SNPdbe	rs75654767
MSV3d	rs75654767
GWAS Ctlg	rs75654767

Merged from

Rs28939689

GMAF

0.0101

Max Magnitude

0

OMIM	602432
Desc
Variant	0003
Related	also

ClinVar
Risk	rs75654767(A;A)
Alt	rs75654767(A;A)
Reference	Rs75654767(G;G)
Significance	Other
Disease	Glaucoma 1 Amyotrophic Lateral Sclerosis Primary open angle glaucoma
Variation	info
Gene	OPTN
CLNDBN	Glaucoma 1, open angle, e Amyotrophic Lateral Sclerosis, Recessive Primary open angle glaucoma
Reversed	0
HGVS	NC_000010.10:g.13178766G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007515.2, RCV000301689.1, RCV000356568.1,