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rs267606893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606893(C;C)
Make rs267606893(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeMT
Position12706
GeneMT-ND5
is asnp
is mentioned by
dbSNPrs267606893
ebirs267606893
HLIrs267606893
Exacrs267606893
Varsomers267606893
Maprs267606893
PheGenIrs267606893
hapmaprs267606893
1000 genomesrs267606893
hgdprs267606893
ensemblrs267606893
gopubmedrs267606893
geneviewrs267606893
scholarrs267606893
googlers267606893
pharmgkbrs267606893
gwascentralrs267606893
openSNPrs267606893
23andMers267606893
23andMe allrs267606893
SNP Nexus

SNPshotrs267606893
SNPdbers267606893
MSV3drs267606893
GWAS Ctlgrs267606893
Merged fromRs2854122
Max Magnitude0
ClinVar
Risk rs267606893(C;C)
Alt rs267606893(C;C)
Reference rs267606893(T;T)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene ND5
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.12706T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010338.2, RCV000144015.2,