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rs587777787

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs587777787(-;-)
Make rs587777787(-;GAA)
Make rs587777787(GAA;GAA)
ReferenceGRCh38 38.1/142
Chromosome14
Position103574116
GeneAPOPT1
is asnp
is mentioned by
dbSNPrs587777787
ebirs587777787
HLIrs587777787
Exacrs587777787
Varsomers587777787
Maprs587777787
PheGenIrs587777787
hapmaprs587777787
1000 genomesrs587777787
hgdprs587777787
ensemblrs587777787
gopubmedrs587777787
geneviewrs587777787
scholarrs587777787
googlers587777787
pharmgkbrs587777787
gwascentralrs587777787
openSNPrs587777787
23andMers587777787
23andMe allrs587777787
SNP Nexus

SNPshotrs587777787
SNPdbers587777787
MSV3drs587777787
GWAS Ctlgrs587777787
Max Magnitude0
ClinVar
Risk rs587777787(;)
Alt rs587777787(;)
Reference rs587777787(AAG;AAG)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene APOPT1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000014.8:g.104040453_104040455delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000144488.2,