Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894556(C;T)
Make rs104894556(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position14159926
GeneCOX10
is asnp
is mentioned by
dbSNPrs104894556
ebirs104894556
HLIrs104894556
Exacrs104894556
Varsomers104894556
Maprs104894556
PheGenIrs104894556
hapmaprs104894556
1000 genomesrs104894556
hgdprs104894556
ensemblrs104894556
gopubmedrs104894556
geneviewrs104894556
scholarrs104894556
googlers104894556
pharmgkbrs104894556
gwascentralrs104894556
openSNPrs104894556
23andMers104894556
23andMe allrs104894556
SNP Nexus

SNPshotrs104894556
SNPdbers104894556
MSV3drs104894556
GWAS Ctlgrs104894556
GMAF0.0004591
Max Magnitude0
OMIM602125
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894556(T;T)
Alt rs104894556(T;T)
Reference rs104894556(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.14063243C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007959.3,