rs80356529

plus

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

Make rs80356529(A;A)

Make rs80356529(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193643996

Gene

OPA1

is a	snp
is	mentioned by
dbSNP	rs80356529
dbSNP (classic)	rs80356529
ClinGen	rs80356529
ebi	rs80356529
HLI	rs80356529
Exac	rs80356529
Gnomad	rs80356529
Varsome	rs80356529
LitVar	rs80356529
Map	rs80356529
PheGenI	rs80356529
Biobank	rs80356529
1000 genomes	rs80356529
hgdp	rs80356529
ensembl	rs80356529
geneview	rs80356529
scholar	rs80356529
google	rs80356529
pharmgkb	rs80356529
gwascentral	rs80356529
openSNP	rs80356529
23andMe	rs80356529
SNPshot	rs80356529
SNPdbe	rs80356529
MSV3d	rs80356529
GWAS Ctlg	rs80356529

Max Magnitude

0

OMIM	605290
Desc
Variant	0011
Related	also

ClinVar
Risk	rs80356529(A;A)
Alt	rs80356529(A;A)
Reference	Rs80356529(G;G)
Significance	Pathogenic
Disease	Autosomal dominant optic atrophy plus syndrome not provided Dominant hereditary optic atrophy
Variation	info
Gene	OPA1
CLNDBN	Autosomal dominant optic atrophy plus syndrome not provided Dominant hereditary optic atrophy
Reversed	0
HGVS	NC_000003.11:g.193361785G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005396.2, RCV000081749.6, RCV000174780.1,

[PMID 16158] [Biologically active substances, prostaglandins and kinins, and their role in the regulation of arterial pressure and the development of arterial hypertension].

[PMID 12566046] A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

[PMID 14644237] The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

[PMID 15531309] Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

[PMID 16240368] OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

[PMID 19029523] OPA1 in multiple mitochondrial DNA deletion disorders.