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rs139877390

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs139877390(C;C)
Make rs139877390(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position42798167
GeneCNTD1, COA3
is asnp
is mentioned by
dbSNPrs139877390
ebirs139877390
HLIrs139877390
Exacrs139877390
Varsomers139877390
Maprs139877390
PheGenIrs139877390
hapmaprs139877390
1000 genomesrs139877390
hgdprs139877390
ensemblrs139877390
gopubmedrs139877390
geneviewrs139877390
scholarrs139877390
googlers139877390
pharmgkbrs139877390
gwascentralrs139877390
openSNPrs139877390
23andMers139877390
23andMe allrs139877390
SNP Nexus

SNPshotrs139877390
SNPdbers139877390
MSV3drs139877390
GWAS Ctlgrs139877390
Max Magnitude0
ClinVar
Risk rs139877390(C;C)
Alt rs139877390(C;C)
Reference rs139877390(T;T)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COA3 CNTD1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000017.10:g.40950185T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000170599.2,