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rs267606891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606891(A;A)
Make rs267606891(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position10197
GeneND3
is asnp
is mentioned by
dbSNPrs267606891
dbSNP (classic)rs267606891
ClinGenrs267606891
ebirs267606891
HLIrs267606891
Exacrs267606891
Gnomadrs267606891
Varsomers267606891
LitVarrs267606891
Maprs267606891
PheGenIrs267606891
Biobankrs267606891
1000 genomesrs267606891
hgdprs267606891
ensemblrs267606891
geneviewrs267606891
scholarrs267606891
googlers267606891
pharmgkbrs267606891
gwascentralrs267606891
openSNPrs267606891
23andMers267606891
SNPshotrs267606891
SNPdbers267606891
MSV3drs267606891
GWAS Ctlgrs267606891
Max Magnitude0
ClinVar
Risk rs267606891(A;A)
Alt rs267606891(A;A)
Reference Rs267606891(G;G)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Leber hereditary optic neuropathy with dystonia Leigh syndrome
Variation info
Gene ND3
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Leber hereditary optic neuropathy with dystonia Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.10197G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010362.2, RCV000010363.4, RCV000144011.2,