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rs267606896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606896(A;T)
Make rs267606896(T;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position13084
GeneMT-CYB
is asnp
is mentioned by
dbSNPrs267606896
ebirs267606896
HLIrs267606896
Exacrs267606896
Varsomers267606896
Maprs267606896
PheGenIrs267606896
hapmaprs267606896
1000 genomesrs267606896
hgdprs267606896
ensemblrs267606896
gopubmedrs267606896
geneviewrs267606896
scholarrs267606896
googlers267606896
pharmgkbrs267606896
gwascentralrs267606896
openSNPrs267606896
23andMers267606896
23andMe allrs267606896
SNP Nexus

SNPshotrs267606896
SNPdbers267606896
MSV3drs267606896
GWAS Ctlgrs267606896
Max Magnitude0
ClinVar
Risk rs267606896(T;T)
Alt rs267606896(T;T)
Reference rs267606896(A;A)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Juvenile myopathy
Variation info
Gene ND5
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Reversed 0
HGVS NC_012920.1:m.13084A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010343.2, RCV000010344.2,