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rs28461189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28461189(C;G)
Make rs28461189(G;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position6489
GeneMT-ATP8
is asnp
is mentioned by
dbSNPrs28461189
ebirs28461189
HLIrs28461189
Exacrs28461189
Varsomers28461189
Maprs28461189
PheGenIrs28461189
hapmaprs28461189
1000 genomesrs28461189
hgdprs28461189
ensemblrs28461189
gopubmedrs28461189
geneviewrs28461189
scholarrs28461189
googlers28461189
pharmgkbrs28461189
gwascentralrs28461189
openSNPrs28461189
23andMers28461189
23andMe allrs28461189
SNP Nexus

SNPshotrs28461189
SNPdbers28461189
MSV3drs28461189
GWAS Ctlgrs28461189
GMAF0.001871
Max Magnitude0
ClinVar
Risk rs28461189(A,G;A,G)
Alt rs28461189(A,G;A,G)
Reference rs28461189(C;C)
Significance Pathogenic
Disease Cytochrome c oxidase i deficiency
Variation info
Gene COX1
CLNDBN Cytochrome c oxidase i deficiency
Reversed 0
HGVS NC_012920.1:m.6489C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010308.2,