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rs886043317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome3
Position193666333
GeneLOC102724808, OPA1
is asnp
is mentioned by
dbSNPrs886043317
dbSNP (classic)rs886043317
ClinGenrs886043317
ebirs886043317
HLIrs886043317
Exacrs886043317
Gnomadrs886043317
Varsomers886043317
LitVarrs886043317
Maprs886043317
PheGenIrs886043317
Biobankrs886043317
1000 genomesrs886043317
hgdprs886043317
ensemblrs886043317
geneviewrs886043317
scholarrs886043317
googlers886043317
pharmgkbrs886043317
gwascentralrs886043317
openSNPrs886043317
23andMers886043317
SNPshotrs886043317
SNPdbers886043317
MSV3drs886043317
GWAS Ctlgrs886043317
Max Magnitude0
ClinVar
Risk rs886043317(A;A)
Alt rs886043317(A;A)
Reference Rs886043317(-;-)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193384122dupA
CLNSRC
CLNACC RCV000273669.1,