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rs794727069

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727069(C;T)
Make rs794727069(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193643431
GeneOPA1
is asnp
is mentioned by
dbSNPrs794727069
ebirs794727069
HLIrs794727069
Exacrs794727069
Varsomers794727069
Maprs794727069
PheGenIrs794727069
hapmaprs794727069
1000 genomesrs794727069
hgdprs794727069
ensemblrs794727069
gopubmedrs794727069
geneviewrs794727069
scholarrs794727069
googlers794727069
pharmgkbrs794727069
gwascentralrs794727069
openSNPrs794727069
23andMers794727069
23andMe allrs794727069
SNP Nexus

SNPshotrs794727069
SNPdbers794727069
MSV3drs794727069
GWAS Ctlgrs794727069
Max Magnitude0
ClinVar
Risk rs794727069(T;T)
Alt rs794727069(T;T)
Reference rs794727069(C;C)
Significance Probable-Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193361220C>T
CLNSRC
CLNACC RCV000174378.1,