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rs267606889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606889(C;C)
Make rs267606889(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position4681
GeneND2
is asnp
is mentioned by
dbSNPrs267606889
dbSNP (classic)rs267606889
ClinGenrs267606889
ebirs267606889
HLIrs267606889
Exacrs267606889
Gnomadrs267606889
Varsomers267606889
LitVarrs267606889
Maprs267606889
PheGenIrs267606889
Biobankrs267606889
1000 genomesrs267606889
hgdprs267606889
ensemblrs267606889
geneviewrs267606889
scholarrs267606889
googlers267606889
pharmgkbrs267606889
gwascentralrs267606889
openSNPrs267606889
23andMers267606889
SNPshotrs267606889
SNPdbers267606889
MSV3drs267606889
GWAS Ctlgrs267606889
Max Magnitude0
ClinVar
Risk rs267606889(C;C)
Alt rs267606889(C;C)
Reference Rs267606889(T;T)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene ND2
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.4681T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010369.3, RCV000144022.2,