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rs267606898

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606898(A;A)
Make rs267606898(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position13042
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs267606898
ebirs267606898
HLIrs267606898
Exacrs267606898
Varsomers267606898
Maprs267606898
PheGenIrs267606898
hapmaprs267606898
1000 genomesrs267606898
hgdprs267606898
ensemblrs267606898
gopubmedrs267606898
geneviewrs267606898
scholarrs267606898
googlers267606898
pharmgkbrs267606898
gwascentralrs267606898
openSNPrs267606898
23andMers267606898
23andMe allrs267606898
SNP Nexus

SNPshotrs267606898
SNPdbers267606898
MSV3drs267606898
GWAS Ctlgrs267606898
Max Magnitude0
ClinVar
Risk rs267606898(A;A)
Alt rs267606898(A;A)
Reference rs267606898(G;G)
Significance Pathogenic
Disease Juvenile myopathy Myoclonus with epilepsy with ragged red fibers Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene ND5
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Myoclonus with epilepsy with ragged red fibers Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_012920.1:m.13042G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010347.2, RCV000010348.3, RCV000010349.3,