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rs118203893

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203893(C;T)
Make rs118203893(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position5877
is asnp
is mentioned by
dbSNPrs118203893
dbSNP (classic)rs118203893
ClinGenrs118203893
ebirs118203893
HLIrs118203893
Exacrs118203893
Gnomadrs118203893
Varsomers118203893
LitVarrs118203893
Maprs118203893
PheGenIrs118203893
Biobankrs118203893
1000 genomesrs118203893
hgdprs118203893
ensemblrs118203893
geneviewrs118203893
scholarrs118203893
googlers118203893
pharmgkbrs118203893
gwascentralrs118203893
openSNPrs118203893
23andMers118203893
SNPshotrs118203893
SNPdbers118203893
MSV3drs118203893
GWAS Ctlgrs118203893
Max Magnitude0
ClinVar
Risk rs118203893(T;T)
Alt rs118203893(T;T)
Reference Rs118203893(C;C)
Significance Pathogenic
Disease Kearns Sayre syndrome
Variation info
Gene
CLNDBN Kearns Sayre syndrome
Reversed 0
HGVS NC_012920.1:m.5877C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010161.4,