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rs794727392

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727392(G;T)
Make rs794727392(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193662963
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs794727392
ebirs794727392
HLIrs794727392
Exacrs794727392
Varsomers794727392
Maprs794727392
PheGenIrs794727392
hapmaprs794727392
1000 genomesrs794727392
hgdprs794727392
ensemblrs794727392
gopubmedrs794727392
geneviewrs794727392
scholarrs794727392
googlers794727392
pharmgkbrs794727392
gwascentralrs794727392
openSNPrs794727392
23andMers794727392
23andMe allrs794727392
SNP Nexus

SNPshotrs794727392
SNPdbers794727392
MSV3drs794727392
GWAS Ctlgrs794727392
Max Magnitude0
ClinVar
Risk rs794727392(T;T)
Alt rs794727392(T;T)
Reference rs794727392(G;G)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1 LOC101929213
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193380752G>T
CLNSRC
CLNACC RCV000176494.1,