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rs80356524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356524(A;A)
Make rs80356524(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45553777
GeneOPA3
is asnp
is mentioned by
dbSNPrs80356524
ebirs80356524
HLIrs80356524
Exacrs80356524
Varsomers80356524
Maprs80356524
PheGenIrs80356524
hapmaprs80356524
1000 genomesrs80356524
hgdprs80356524
ensemblrs80356524
gopubmedrs80356524
geneviewrs80356524
scholarrs80356524
googlers80356524
pharmgkbrs80356524
gwascentralrs80356524
openSNPrs80356524
23andMers80356524
23andMe allrs80356524
SNP Nexus

SNPshotrs80356524
SNPdbers80356524
MSV3drs80356524
GWAS Ctlgrs80356524
Max Magnitude0
OMIM606580
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356524(A;A)
Alt rs80356524(A;A)
Reference rs80356524(G;G)
Significance Pathogenic
Disease Optic atrophy and cataract
Variation info
Gene OPA3
CLNDBN Optic atrophy and cataract, autosomal dominant
Reversed 1
HGVS NC_000019.9:g.46057035C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004462.2,


[PMID 13703570] [On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms].


[PMID 15342707OA-icon.png] OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.