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rs879255512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255512(-;-)
Make rs879255512(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position193644016
GeneOPA1
is asnp
is mentioned by
dbSNPrs879255512
dbSNP (classic)rs879255512
ClinGenrs879255512
ebirs879255512
HLIrs879255512
Exacrs879255512
Gnomadrs879255512
Varsomers879255512
LitVarrs879255512
Maprs879255512
PheGenIrs879255512
Biobankrs879255512
1000 genomesrs879255512
hgdprs879255512
ensemblrs879255512
geneviewrs879255512
scholarrs879255512
googlers879255512
pharmgkbrs879255512
gwascentralrs879255512
openSNPrs879255512
23andMers879255512
SNPshotrs879255512
SNPdbers879255512
MSV3drs879255512
GWAS Ctlgrs879255512
Max Magnitude0
ClinVar
Risk rs879255512(-;-)
Alt rs879255512(-;-)
Reference Rs879255512(G;G)
Significance Pathogenic
Disease Dominant hereditary optic atrophy
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy
Reversed 0
HGVS NC_000003.11:g.193361805delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005392.2,