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rs786204771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5.6 Coenzyme Q10 Deficiency; severity varies
(-;CCA) 3 Carrier of a coenzyme Q10 deficiency mutation
(CCA;CCA) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position128332271
GeneCOQ4
is asnp
is mentioned by
dbSNPrs786204771
dbSNP (classic)rs786204771
ClinGenrs786204771
ebirs786204771
HLIrs786204771
Exacrs786204771
Gnomadrs786204771
Varsomers786204771
LitVarrs786204771
Maprs786204771
PheGenIrs786204771
Biobankrs786204771
1000 genomesrs786204771
hgdprs786204771
ensemblrs786204771
geneviewrs786204771
scholarrs786204771
googlers786204771
pharmgkbrs786204771
gwascentralrs786204771
openSNPrs786204771
23andMers786204771
SNPshotrs786204771
SNPdbers786204771
MSV3drs786204771
GWAS Ctlgrs786204771
Max Magnitude5.6
ClinVar
Risk Rs786204771(-;-)
Alt Rs786204771(-;-)
Reference Rs786204771(CCA;CCA)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ4
CLNDBN Coenzyme Q10 deficiency, primary, 7
Reversed 0
HGVS NC_000009.11:g.131094550_131094552delCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000169638.5,