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rs267606895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606895(A;C)
Make rs267606895(C;C)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position13045
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs267606895
ebirs267606895
HLIrs267606895
Exacrs267606895
Varsomers267606895
Maprs267606895
PheGenIrs267606895
hapmaprs267606895
1000 genomesrs267606895
hgdprs267606895
ensemblrs267606895
gopubmedrs267606895
geneviewrs267606895
scholarrs267606895
googlers267606895
pharmgkbrs267606895
gwascentralrs267606895
openSNPrs267606895
23andMers267606895
23andMe allrs267606895
SNP Nexus

SNPshotrs267606895
SNPdbers267606895
MSV3drs267606895
GWAS Ctlgrs267606895
Max Magnitude0
ClinVar
Risk rs267606895(C;C)
Alt rs267606895(C;C)
Reference rs267606895(A;A)
Significance Pathogenic
Disease Juvenile myopathy Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene ND5
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber's optic atrophy Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_012920.1:m.13045A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010340.2, RCV000010341.2, RCV000010342.3,