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rs606231176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231176(-;-)
Make rs606231176(-;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position5888
is asnp
is mentioned by
dbSNPrs606231176
dbSNP (classic)rs606231176
ClinGenrs606231176
ebirs606231176
HLIrs606231176
Exacrs606231176
Gnomadrs606231176
Varsomers606231176
LitVarrs606231176
Maprs606231176
PheGenIrs606231176
Biobankrs606231176
1000 genomesrs606231176
hgdprs606231176
ensemblrs606231176
geneviewrs606231176
scholarrs606231176
googlers606231176
pharmgkbrs606231176
gwascentralrs606231176
openSNPrs606231176
23andMers606231176
SNPshotrs606231176
SNPdbers606231176
MSV3drs606231176
GWAS Ctlgrs606231176
Max Magnitude0
ClinVar
Risk rs606231176(-;-)
Alt rs606231176(-;-)
Reference Rs606231176(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,