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rs80356531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356531(-;-)
Make rs80356531(-;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193692070
GeneOPA1
is asnp
is mentioned by
dbSNPrs80356531
ebirs80356531
HLIrs80356531
Exacrs80356531
Varsomers80356531
Maprs80356531
PheGenIrs80356531
hapmaprs80356531
1000 genomesrs80356531
hgdprs80356531
ensemblrs80356531
gopubmedrs80356531
geneviewrs80356531
scholarrs80356531
googlers80356531
pharmgkbrs80356531
gwascentralrs80356531
openSNPrs80356531
23andMers80356531
23andMe allrs80356531
SNP Nexus

SNPshotrs80356531
SNPdbers80356531
MSV3drs80356531
GWAS Ctlgrs80356531
Max Magnitude0
OMIM605290
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80356531(;)
Alt rs80356531(;)
Reference rs80356531(T;T)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193409859delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005393.2,


[PMID 11735024] A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.