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rs587776904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776904(A;A)
Make rs587776904(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position50120100
GeneCOX14
is asnp
is mentioned by
dbSNPrs587776904
ebirs587776904
HLIrs587776904
Exacrs587776904
Varsomers587776904
Maprs587776904
PheGenIrs587776904
hapmaprs587776904
1000 genomesrs587776904
hgdprs587776904
ensemblrs587776904
gopubmedrs587776904
geneviewrs587776904
scholarrs587776904
googlers587776904
pharmgkbrs587776904
gwascentralrs587776904
openSNPrs587776904
23andMers587776904
23andMe allrs587776904
SNP Nexus

SNPshotrs587776904
SNPdbers587776904
MSV3drs587776904
GWAS Ctlgrs587776904
Max Magnitude0
ClinVar
Risk rs587776904(A;A)
Alt rs587776904(A;A)
Reference rs587776904(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX14
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000012.11:g.50513883G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024195.3,