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rs397507451

From SNPedia

Merged intors386829069
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397507451(C;C)
Make rs397507451(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeMT
Position9191
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs397507451
ebirs397507451
HLIrs397507451
Exacrs397507451
Varsomers397507451
Maprs397507451
PheGenIrs397507451
hapmaprs397507451
1000 genomesrs397507451
hgdprs397507451
ensemblrs397507451
gopubmedrs397507451
geneviewrs397507451
scholarrs397507451
googlers397507451
pharmgkbrs397507451
gwascentralrs397507451
openSNPrs397507451
23andMers397507451
23andMe allrs397507451
SNP Nexus

SNPshotrs397507451
SNPdbers397507451
MSV3drs397507451
GWAS Ctlgrs397507451
StatusMerged into rs386829069
Max Magnitude0
ClinVar
Risk rs397507451(C;C)
Alt rs397507451(C;C)
Reference rs397507451(T;T)
Significance Pathogenic
Disease Leigh's disease
Variation info
Gene ATP6
CLNDBN Leigh's disease
Reversed 0
HGVS NC_012920.1:m.9191T>C
CLNSRC ClinVar GTR
CLNACC RCV000144006.2,