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rs587777786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777786(C;C)
Make rs587777786(C;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position103571813
GeneAPOPT1
is asnp
is mentioned by
dbSNPrs587777786
ebirs587777786
HLIrs587777786
Exacrs587777786
Varsomers587777786
Maprs587777786
PheGenIrs587777786
hapmaprs587777786
1000 genomesrs587777786
hgdprs587777786
ensemblrs587777786
gopubmedrs587777786
geneviewrs587777786
scholarrs587777786
googlers587777786
pharmgkbrs587777786
gwascentralrs587777786
openSNPrs587777786
23andMers587777786
23andMe allrs587777786
SNP Nexus

SNPshotrs587777786
SNPdbers587777786
MSV3drs587777786
GWAS Ctlgrs587777786
Max Magnitude0
ClinVar
Risk rs587777786(C;C)
Alt rs587777786(C;C)
Reference rs587777786(T;T)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene APOPT1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000014.8:g.104038150T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144487.3,