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rs587777785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777785(A;A)
Make rs587777785(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position103571622
GeneAPOPT1
is asnp
is mentioned by
dbSNPrs587777785
ebirs587777785
HLIrs587777785
Exacrs587777785
Varsomers587777785
Maprs587777785
PheGenIrs587777785
hapmaprs587777785
1000 genomesrs587777785
hgdprs587777785
ensemblrs587777785
gopubmedrs587777785
geneviewrs587777785
scholarrs587777785
googlers587777785
pharmgkbrs587777785
gwascentralrs587777785
openSNPrs587777785
23andMers587777785
23andMe allrs587777785
SNP Nexus

SNPshotrs587777785
SNPdbers587777785
MSV3drs587777785
GWAS Ctlgrs587777785
Max Magnitude0
ClinVar
Risk rs587777785(A;A)
Alt rs587777785(A;A)
Reference rs587777785(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene APOPT1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000014.8:g.104037959G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144486.2,