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rs587777784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777784(C;T)
Make rs587777784(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position103571695
GeneAPOPT1
is asnp
is mentioned by
dbSNPrs587777784
ebirs587777784
HLIrs587777784
Exacrs587777784
Varsomers587777784
Maprs587777784
PheGenIrs587777784
hapmaprs587777784
1000 genomesrs587777784
hgdprs587777784
ensemblrs587777784
gopubmedrs587777784
geneviewrs587777784
scholarrs587777784
googlers587777784
pharmgkbrs587777784
gwascentralrs587777784
openSNPrs587777784
23andMers587777784
23andMe allrs587777784
SNP Nexus

SNPshotrs587777784
SNPdbers587777784
MSV3drs587777784
GWAS Ctlgrs587777784
Max Magnitude0
ClinVar
Risk rs587777784(G,T;G,T)
Alt rs587777784(G,T;G,T)
Reference rs587777784(C;C)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene APOPT1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000014.8:g.104038032C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144485.2,