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rs80356529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356529(A;A)
Make rs80356529(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position193643996
GeneOPA1
is asnp
is mentioned by
dbSNPrs80356529
ebirs80356529
HLIrs80356529
Exacrs80356529
Varsomers80356529
Maprs80356529
PheGenIrs80356529
hapmaprs80356529
1000 genomesrs80356529
hgdprs80356529
ensemblrs80356529
gopubmedrs80356529
geneviewrs80356529
scholarrs80356529
googlers80356529
pharmgkbrs80356529
gwascentralrs80356529
openSNPrs80356529
23andMers80356529
23andMe allrs80356529
SNP Nexus

SNPshotrs80356529
SNPdbers80356529
MSV3drs80356529
GWAS Ctlgrs80356529
Max Magnitude0
OMIM605290
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356529(A;A)
Alt rs80356529(A;A)
Reference rs80356529(G;G)
Significance Pathogenic
Disease Optic Atrophy Type 1 not provided Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Optic Atrophy Type 1 not provided Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193361785G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005396.2, RCV000081749.5, 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.