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rs200613617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200613617(A;A)
Make rs200613617(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9804
GeneCOX3
is asnp
is mentioned by
dbSNPrs200613617
dbSNP (classic)rs200613617
ClinGenrs200613617
ebirs200613617
HLIrs200613617
Exacrs200613617
Gnomadrs200613617
Varsomers200613617
LitVarrs200613617
Maprs200613617
PheGenIrs200613617
Biobankrs200613617
1000 genomesrs200613617
hgdprs200613617
ensemblrs200613617
geneviewrs200613617
scholarrs200613617
googlers200613617
pharmgkbrs200613617
gwascentralrs200613617
openSNPrs200613617
23andMers200613617
SNPshotrs200613617
SNPdbers200613617
MSV3drs200613617
GWAS Ctlgrs200613617
GMAF0.001871
Max Magnitude0
ClinVar
Risk rs200613617(A;A)
Alt rs200613617(A;A)
Reference Rs200613617(G;G)
Significance Pathogenic
Disease Leber's optic atrophy
Variation info
Gene COX3
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.9804G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010287.2,