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rs267606897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606897(A;A)
Make rs267606897(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position13513
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs267606897
ebirs267606897
HLIrs267606897
Exacrs267606897
Varsomers267606897
Maprs267606897
PheGenIrs267606897
hapmaprs267606897
1000 genomesrs267606897
hgdprs267606897
ensemblrs267606897
gopubmedrs267606897
geneviewrs267606897
scholarrs267606897
googlers267606897
pharmgkbrs267606897
gwascentralrs267606897
openSNPrs267606897
23andMers267606897
23andMe allrs267606897
SNP Nexus

SNPshotrs267606897
SNPdbers267606897
MSV3drs267606897
GWAS Ctlgrs267606897
Max Magnitude0
ClinVar
Risk rs267606897(A;A)
Alt rs267606897(A;A)
Reference rs267606897(G;G)
Significance Pathogenic
Disease Juvenile myopathy Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome not provided
Variation info
Gene ND5
CLNDBN Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome not provided
Reversed 0
HGVS NC_012920.1:m.13513G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010345.4, RCV000010346.3, RCV000144016.2, RCV000224472.1,