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rs118203884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203884(C;C)
Make rs118203884(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position4409
is asnp
is mentioned by
dbSNPrs118203884
dbSNP (classic)rs118203884
ClinGenrs118203884
ebirs118203884
HLIrs118203884
Exacrs118203884
Gnomadrs118203884
Varsomers118203884
LitVarrs118203884
Maprs118203884
PheGenIrs118203884
Biobankrs118203884
1000 genomesrs118203884
hgdprs118203884
ensemblrs118203884
geneviewrs118203884
scholarrs118203884
googlers118203884
pharmgkbrs118203884
gwascentralrs118203884
openSNPrs118203884
23andMers118203884
SNPshotrs118203884
SNPdbers118203884
MSV3drs118203884
GWAS Ctlgrs118203884
Max Magnitude0
ClinVar
Risk rs118203884(C;C)
Alt rs118203884(C;C)
Reference Rs118203884(T;T)
Significance Pathogenic
Disease Mitochondrial myopathy
Variation info
Gene
CLNDBN Mitochondrial myopathy
Reversed 0
HGVS NC_012920.1:m.4409T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010191.3,