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rs758522459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758522459(C;C)
Make rs758522459(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position128323147
GeneCOQ4, TRUB2
is asnp
is mentioned by
dbSNPrs758522459
dbSNP (classic)rs758522459
ClinGenrs758522459
ebirs758522459
HLIrs758522459
Exacrs758522459
Gnomadrs758522459
Varsomers758522459
LitVarrs758522459
Maprs758522459
PheGenIrs758522459
Biobankrs758522459
1000 genomesrs758522459
hgdprs758522459
ensemblrs758522459
geneviewrs758522459
scholarrs758522459
googlers758522459
pharmgkbrs758522459
gwascentralrs758522459
openSNPrs758522459
23andMers758522459
23andMe allrs758522459
SNPshotrs758522459
SNPdbers758522459
MSV3drs758522459
GWAS Ctlgrs758522459
Max Magnitude0
ClinVar
Risk rs758522459(C;C)
Alt rs758522459(C;C)
Reference Rs758522459(G;G)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ4 TRUB2
CLNDBN Coenzyme Q10 deficiency, primary, 7
Reversed 0
HGVS NC_000009.11:g.131085426G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000258061.2,