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rs794727405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727405(C;T)
Make rs794727405(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193664952
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs794727405
dbSNP (classic)rs794727405
ClinGenrs794727405
ebirs794727405
HLIrs794727405
Exacrs794727405
Gnomadrs794727405
Varsomers794727405
LitVarrs794727405
Maprs794727405
PheGenIrs794727405
Biobankrs794727405
1000 genomesrs794727405
hgdprs794727405
ensemblrs794727405
geneviewrs794727405
scholarrs794727405
googlers794727405
pharmgkbrs794727405
gwascentralrs794727405
openSNPrs794727405
23andMers794727405
SNPshotrs794727405
SNPdbers794727405
MSV3drs794727405
GWAS Ctlgrs794727405
Max Magnitude0
ClinVar
Risk rs794727405(T;T)
Alt rs794727405(T;T)
Reference Rs794727405(C;C)
Significance Pathogenic
Disease Dominant hereditary optic atrophy not provided
Variation info
Gene OPA1 LOC101929213
CLNDBN Dominant hereditary optic atrophy not provided
Reversed 0
HGVS NC_000003.11:g.193382741C>T
CLNSRC
CLNACC RCV000176576.1, RCV000199431.2,