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rs80356523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356523(C;C)
Make rs80356523(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45553912
GeneOPA3
is asnp
is mentioned by
dbSNPrs80356523
ebirs80356523
HLIrs80356523
Exacrs80356523
Varsomers80356523
Maprs80356523
PheGenIrs80356523
hapmaprs80356523
1000 genomesrs80356523
hgdprs80356523
ensemblrs80356523
gopubmedrs80356523
geneviewrs80356523
scholarrs80356523
googlers80356523
pharmgkbrs80356523
gwascentralrs80356523
openSNPrs80356523
23andMers80356523
23andMe allrs80356523
SNP Nexus

SNPshotrs80356523
SNPdbers80356523
MSV3drs80356523
GWAS Ctlgrs80356523
Max Magnitude0
OMIM606580
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356523(C;C)
Alt rs80356523(C;C)
Reference rs80356523(G;G)
Significance Pathogenic
Disease 3-Methylglutaconic aciduria type 3
Variation info
Gene OPA3
CLNDBN 3-Methylglutaconic aciduria type 3
Reversed 1
HGVS NC_000019.9:g.46057170C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004461.2,


[PMID 11668429OA-icon.png] Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.