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rs587777220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777220(C;T)
Make rs587777220(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position10692932
GeneSCO1
is asnp
is mentioned by
dbSNPrs587777220
ebirs587777220
HLIrs587777220
Exacrs587777220
Varsomers587777220
Maprs587777220
PheGenIrs587777220
hapmaprs587777220
1000 genomesrs587777220
hgdprs587777220
ensemblrs587777220
gopubmedrs587777220
geneviewrs587777220
scholarrs587777220
googlers587777220
pharmgkbrs587777220
gwascentralrs587777220
openSNPrs587777220
23andMers587777220
23andMe allrs587777220
SNP Nexus

SNPshotrs587777220
SNPdbers587777220
MSV3drs587777220
GWAS Ctlgrs587777220
Max Magnitude0
ClinVar
Risk rs587777220(T;T)
Alt rs587777220(T;T)
Reference rs587777220(C;C)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene SCO1
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_000017.10:g.10596249C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000106300.2,