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rs267606611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606611(A;A)
Make rs267606611(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9438
GeneCOX3
is asnp
is mentioned by
dbSNPrs267606611
dbSNP (classic)rs267606611
ClinGenrs267606611
ebirs267606611
HLIrs267606611
Exacrs267606611
Gnomadrs267606611
Varsomers267606611
LitVarrs267606611
Maprs267606611
PheGenIrs267606611
Biobankrs267606611
1000 genomesrs267606611
hgdprs267606611
ensemblrs267606611
geneviewrs267606611
scholarrs267606611
googlers267606611
pharmgkbrs267606611
gwascentralrs267606611
openSNPrs267606611
23andMers267606611
SNPshotrs267606611
SNPdbers267606611
MSV3drs267606611
GWAS Ctlgrs267606611
GMAF0.005613
Max Magnitude0
ClinVar
Risk rs267606611(A;A)
Alt rs267606611(A;A)
Reference Rs267606611(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.9438G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010286.2,