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rs886040973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs886040973(AA;AA)
Make rs886040973(AA;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position128323142
GeneCOQ4, TRUB2
is asnp
is mentioned by
dbSNPrs886040973
dbSNP (classic)rs886040973
ClinGenrs886040973
ebirs886040973
HLIrs886040973
Exacrs886040973
Gnomadrs886040973
Varsomers886040973
LitVarrs886040973
Maprs886040973
PheGenIrs886040973
Biobankrs886040973
1000 genomesrs886040973
hgdprs886040973
ensemblrs886040973
geneviewrs886040973
scholarrs886040973
googlers886040973
pharmgkbrs886040973
gwascentralrs886040973
openSNPrs886040973
23andMers886040973
SNPshotrs886040973
SNPdbers886040973
MSV3drs886040973
GWAS Ctlgrs886040973
Max Magnitude0
ClinVar
Risk rs886040973(AA;AA)
Alt rs886040973(AA;AA)
Reference Rs886040973(GC;GC)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ4 TRUB2
CLNDBN Coenzyme Q10 deficiency, primary, 7
Reversed 0
HGVS NC_000009.11:g.131085421_131085422delGCinsAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000258060.2,