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rs794727345

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs794727345(-;-)
Make rs794727345(-;GA)
Make rs794727345(GA;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position193657125
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs794727345
ebirs794727345
HLIrs794727345
Exacrs794727345
Varsomers794727345
Maprs794727345
PheGenIrs794727345
hapmaprs794727345
1000 genomesrs794727345
hgdprs794727345
ensemblrs794727345
gopubmedrs794727345
geneviewrs794727345
scholarrs794727345
googlers794727345
pharmgkbrs794727345
gwascentralrs794727345
openSNPrs794727345
23andMers794727345
23andMe allrs794727345
SNP Nexus

SNPshotrs794727345
SNPdbers794727345
MSV3drs794727345
GWAS Ctlgrs794727345
Max Magnitude0
ClinVar
Risk rs794727345(;)
Alt rs794727345(;)
Reference rs794727345(AG;AG)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1 LOC101929213
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193374914_193374915delGA
CLNSRC
CLNACC RCV000176222.1,