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rs118203892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118203892(-;-)
Make rs118203892(-;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position5885
is asnp
is mentioned by
dbSNPrs118203892
dbSNP (classic)rs118203892
ClinGenrs118203892
ebirs118203892
HLIrs118203892
Exacrs118203892
Gnomadrs118203892
Varsomers118203892
LitVarrs118203892
Maprs118203892
PheGenIrs118203892
Biobankrs118203892
1000 genomesrs118203892
hgdprs118203892
ensemblrs118203892
geneviewrs118203892
scholarrs118203892
googlers118203892
pharmgkbrs118203892
gwascentralrs118203892
openSNPrs118203892
23andMers118203892
SNPshotrs118203892
SNPdbers118203892
MSV3drs118203892
GWAS Ctlgrs118203892
Max Magnitude0
ClinVar
Risk rs118203892(-;-)
Alt rs118203892(-;-)
Reference Rs118203892(T;T)
Significance Pathogenic
Disease Kearns Sayre syndrome
Variation info
Gene
CLNDBN Kearns Sayre syndrome
Reversed 0
HGVS NC_012920.1:m.5888delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010160.4,