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rs118203891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203891(C;C)
Make rs118203891(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position5874
is asnp
is mentioned by
dbSNPrs118203891
dbSNP (classic)rs118203891
ClinGenrs118203891
ebirs118203891
HLIrs118203891
Exacrs118203891
Gnomadrs118203891
Varsomers118203891
LitVarrs118203891
Maprs118203891
PheGenIrs118203891
Biobankrs118203891
1000 genomesrs118203891
hgdprs118203891
ensemblrs118203891
geneviewrs118203891
scholarrs118203891
googlers118203891
pharmgkbrs118203891
gwascentralrs118203891
openSNPrs118203891
23andMers118203891
SNPshotrs118203891
SNPdbers118203891
MSV3drs118203891
GWAS Ctlgrs118203891
Max Magnitude0
ClinVar
Risk rs118203891(C;C)
Alt rs118203891(C;C)
Reference Rs118203891(T;T)
Significance Pathogenic
Disease Exercise intolerance and complex III deficiency
Variation info
Gene
CLNDBN Exercise intolerance and complex III deficiency, somatic
Reversed 0
HGVS NC_012920.1:m.5874T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010159.4,