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rs80356525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356525(C;G)
Make rs80356525(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45553741
GeneOPA3
is asnp
is mentioned by
dbSNPrs80356525
ebirs80356525
HLIrs80356525
Exacrs80356525
Varsomers80356525
Maprs80356525
PheGenIrs80356525
hapmaprs80356525
1000 genomesrs80356525
hgdprs80356525
ensemblrs80356525
gopubmedrs80356525
geneviewrs80356525
scholarrs80356525
googlers80356525
pharmgkbrs80356525
gwascentralrs80356525
openSNPrs80356525
23andMers80356525
23andMe allrs80356525
SNP Nexus

SNPshotrs80356525
SNPdbers80356525
MSV3drs80356525
GWAS Ctlgrs80356525
Max Magnitude0
OMIM606580
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356525(G;G)
Alt rs80356525(G;G)
Reference rs80356525(C;C)
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.46056999G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004463.2,


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