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rs869025575

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025575(C;C)
Make rs869025575(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position63976224
GeneCOX8A
is asnp
is mentioned by
dbSNPrs869025575
ebirs869025575
HLIrs869025575
Exacrs869025575
Varsomers869025575
Maprs869025575
PheGenIrs869025575
hapmaprs869025575
1000 genomesrs869025575
hgdprs869025575
ensemblrs869025575
gopubmedrs869025575
geneviewrs869025575
scholarrs869025575
googlers869025575
pharmgkbrs869025575
gwascentralrs869025575
openSNPrs869025575
23andMers869025575
23andMe allrs869025575
SNP Nexus

SNPshotrs869025575
SNPdbers869025575
MSV3drs869025575
GWAS Ctlgrs869025575
Max Magnitude0
ClinVar
Risk rs869025575(C;C)
Alt rs869025575(C;C)
Reference rs869025575(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX8A
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000011.9:g.63743696G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208577.1,