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rs199476128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476128(A;A)
Make rs199476128(A;G)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position6480
GeneMT-ATP8
is asnp
is mentioned by
dbSNPrs199476128
ebirs199476128
HLIrs199476128
Exacrs199476128
Varsomers199476128
Maprs199476128
PheGenIrs199476128
hapmaprs199476128
1000 genomesrs199476128
hgdprs199476128
ensemblrs199476128
gopubmedrs199476128
geneviewrs199476128
scholarrs199476128
googlers199476128
pharmgkbrs199476128
gwascentralrs199476128
openSNPrs199476128
23andMers199476128
23andMe allrs199476128
SNP Nexus

SNPshotrs199476128
SNPdbers199476128
MSV3drs199476128
GWAS Ctlgrs199476128
GMAF0.005613
Max Magnitude0
ClinVar
Risk rs199476128(A;A)
Alt rs199476128(A;A)
Reference rs199476128(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.6480G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010304.2,