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rs104894560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894560(A;A)
Make rs104894560(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position14102230
GeneCOX10
is asnp
is mentioned by
dbSNPrs104894560
ebirs104894560
HLIrs104894560
Exacrs104894560
Varsomers104894560
Maprs104894560
PheGenIrs104894560
hapmaprs104894560
1000 genomesrs104894560
hgdprs104894560
ensemblrs104894560
gopubmedrs104894560
geneviewrs104894560
scholarrs104894560
googlers104894560
pharmgkbrs104894560
gwascentralrs104894560
openSNPrs104894560
23andMers104894560
23andMe allrs104894560
SNP Nexus

SNPshotrs104894560
SNPdbers104894560
MSV3drs104894560
GWAS Ctlgrs104894560
Max Magnitude0
OMIM602125
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894560(A;A)
Alt rs104894560(A;A)
Reference rs104894560(C;C)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX10
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000017.10:g.14005547C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007956.3,