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rs104894555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894555(A;A)
Make rs104894555(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position14102205
GeneCOX10
is asnp
is mentioned by
dbSNPrs104894555
ebirs104894555
HLIrs104894555
Exacrs104894555
Varsomers104894555
Maprs104894555
PheGenIrs104894555
hapmaprs104894555
1000 genomesrs104894555
hgdprs104894555
ensemblrs104894555
gopubmedrs104894555
geneviewrs104894555
scholarrs104894555
googlers104894555
pharmgkbrs104894555
gwascentralrs104894555
openSNPrs104894555
23andMers104894555
23andMe allrs104894555
SNP Nexus

SNPshotrs104894555
SNPdbers104894555
MSV3drs104894555
GWAS Ctlgrs104894555
Max Magnitude0
OMIM602125
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894555(A;A)
Alt rs104894555(A;A)
Reference rs104894555(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.14005522C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007958.4,