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rs794727804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs794727804(-;-)
Make rs794727804(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193631622
GeneOPA1
is asnp
is mentioned by
dbSNPrs794727804
dbSNP (classic)rs794727804
ClinGenrs794727804
ebirs794727804
HLIrs794727804
Exacrs794727804
Gnomadrs794727804
Varsomers794727804
LitVarrs794727804
Maprs794727804
PheGenIrs794727804
Biobankrs794727804
1000 genomesrs794727804
hgdprs794727804
ensemblrs794727804
geneviewrs794727804
scholarrs794727804
googlers794727804
pharmgkbrs794727804
gwascentralrs794727804
openSNPrs794727804
23andMers794727804
SNPshotrs794727804
SNPdbers794727804
MSV3drs794727804
GWAS Ctlgrs794727804
Max Magnitude0
ClinVar
Risk rs794727804(-;-)
Alt rs794727804(-;-)
Reference Rs794727804(AA;AA)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193349411_193349412delAA
CLNSRC
CLNACC RCV000179491.2,