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rs28679680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28679680(A;A)
Make rs28679680(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position6930
GeneCOX1
is asnp
is mentioned by
dbSNPrs28679680
dbSNP (old)rs28679680
ClinGenrs28679680
ebirs28679680
HLIrs28679680
Exacrs28679680
Gnomadrs28679680
Varsomers28679680
Maprs28679680
PheGenIrs28679680
Biobankrs28679680
1000 genomesrs28679680
hgdprs28679680
ensemblrs28679680
gopubmedrs28679680
geneviewrs28679680
scholarrs28679680
googlers28679680
pharmgkbrs28679680
gwascentralrs28679680
openSNPrs28679680
23andMers28679680
23andMe allrs28679680
SNP Nexus

SNPshotrs28679680
SNPdbers28679680
MSV3drs28679680
GWAS Ctlgrs28679680
Max Magnitude0
ClinVar
Risk rs28679680(A;A)
Alt rs28679680(A;A)
Reference Rs28679680(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.6930G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010306.2,