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rs879255510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255510(A;A)
Make rs879255510(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position193642764
GeneOPA1
is asnp
is mentioned by
dbSNPrs879255510
dbSNP (classic)rs879255510
ClinGenrs879255510
ebirs879255510
HLIrs879255510
Exacrs879255510
Gnomadrs879255510
Varsomers879255510
LitVarrs879255510
Maprs879255510
PheGenIrs879255510
Biobankrs879255510
1000 genomesrs879255510
hgdprs879255510
ensemblrs879255510
geneviewrs879255510
scholarrs879255510
googlers879255510
pharmgkbrs879255510
gwascentralrs879255510
openSNPrs879255510
23andMers879255510
SNPshotrs879255510
SNPdbers879255510
MSV3drs879255510
GWAS Ctlgrs879255510
Max Magnitude0
ClinVar
Risk rs879255510(A;A)
Alt rs879255510(A;A)
Reference Rs879255510(G;G)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193360553G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005386.2,