Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(GAG;GAG) 0 common in clinvar
Make rs587776629(-;-)
Make rs587776629(-;TC)
Make rs587776629(TC;TC)
ReferenceGRCh38 38.1/142
Chromosome17
Position10695741
GeneADPRM, SCO1
is asnp
is mentioned by
dbSNPrs587776629
ebirs587776629
HLIrs587776629
Exacrs587776629
Varsomers587776629
Maprs587776629
PheGenIrs587776629
hapmaprs587776629
1000 genomesrs587776629
hgdprs587776629
ensemblrs587776629
gopubmedrs587776629
geneviewrs587776629
scholarrs587776629
googlers587776629
pharmgkbrs587776629
gwascentralrs587776629
openSNPrs587776629
23andMers587776629
23andMe allrs587776629
SNP Nexus

SNPshotrs587776629
SNPdbers587776629
MSV3drs587776629
GWAS Ctlgrs587776629
Max Magnitude0
ClinVar
Risk rs587776629(TCG,G;TCG,G)
Alt rs587776629(TCG,G;TCG,G)
Reference rs587776629(GAG;GAG)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene SCO1 ADPRM
CLNDBN Cytochrome-c oxidase deficiency
Reversed 1
HGVS NC_000017.10:g.10599058_10599059delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006554.3,