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rs587776443

From SNPedia

Merged intors369202065
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776443(C;C)
Make rs587776443(C;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position8839
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs587776443
dbSNP (classic)rs587776443
ClinGenrs587776443
ebirs587776443
HLIrs587776443
Exacrs587776443
Gnomadrs587776443
Varsomers587776443
LitVarrs587776443
Maprs587776443
PheGenIrs587776443
Biobankrs587776443
1000 genomesrs587776443
hgdprs587776443
ensemblrs587776443
geneviewrs587776443
scholarrs587776443
googlers587776443
pharmgkbrs587776443
gwascentralrs587776443
openSNPrs587776443
23andMers587776443
SNPshotrs587776443
SNPdbers587776443
MSV3drs587776443
GWAS Ctlgrs587776443
StatusMerged into rs369202065
Max Magnitude0
ClinVar
Risk rs587776443(C;C)
Alt rs587776443(C;C)
Reference Rs587776443(G;G)
Significance Pathogenic
Disease Leigh's disease
Variation info
Gene ATP6
CLNDBN Leigh's disease
Reversed 0
HGVS NC_012920.1:m.8839G>C
CLNSRC
CLNACC RCV000144024.2,