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rs766317663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a coenzyme Q10 deficiency mutation
(T;T) 5.6 Coenzyme Q10 Deficiency; severity varies
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position128323135
GeneCOQ4, TRUB2
is asnp
is mentioned by
dbSNPrs766317663
dbSNP (classic)rs766317663
ClinGenrs766317663
ebirs766317663
HLIrs766317663
Exacrs766317663
Gnomadrs766317663
Varsomers766317663
LitVarrs766317663
Maprs766317663
PheGenIrs766317663
Biobankrs766317663
1000 genomesrs766317663
hgdprs766317663
ensemblrs766317663
geneviewrs766317663
scholarrs766317663
googlers766317663
pharmgkbrs766317663
gwascentralrs766317663
openSNPrs766317663
23andMers766317663
SNPshotrs766317663
SNPdbers766317663
MSV3drs766317663
GWAS Ctlgrs766317663
Max Magnitude5.6
ClinVar
Risk Rs766317663(T;T)
Alt Rs766317663(T;T)
Reference Rs766317663(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ4 TRUB2
CLNDBN Coenzyme Q10 deficiency, primary, 7
Reversed 0
HGVS NC_000009.11:g.131085414C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000169639.5,