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rs762616589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762616589(A;A)
Make rs762616589(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position83269867
GeneCOQ2
is asnp
is mentioned by
dbSNPrs762616589
dbSNP (classic)rs762616589
ClinGenrs762616589
ebirs762616589
HLIrs762616589
Exacrs762616589
Gnomadrs762616589
Varsomers762616589
LitVarrs762616589
Maprs762616589
PheGenIrs762616589
Biobankrs762616589
1000 genomesrs762616589
hgdprs762616589
ensemblrs762616589
geneviewrs762616589
scholarrs762616589
googlers762616589
pharmgkbrs762616589
gwascentralrs762616589
openSNPrs762616589
23andMers762616589
SNPshotrs762616589
SNPdbers762616589
MSV3drs762616589
GWAS Ctlgrs762616589
Max Magnitude0
ClinVar
Risk rs762616589(A;A) rs762616589(C;C)
Alt rs762616589(A;A) rs762616589(C;C)
Reference Rs762616589(G;G)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ2
CLNDBN Coenzyme Q10 deficiency, primary
Reversed 0
HGVS NC_000004.11:g.84191020G>A
CLNSRC
CLNACC RCV000416400.1,