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rs397514479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514479(A;A)
Make rs397514479(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position73961339
GeneCOQ6
is asnp
is mentioned by
dbSNPrs397514479
ebirs397514479
HLIrs397514479
Exacrs397514479
Varsomers397514479
Maprs397514479
PheGenIrs397514479
hapmaprs397514479
1000 genomesrs397514479
hgdprs397514479
ensemblrs397514479
gopubmedrs397514479
geneviewrs397514479
scholarrs397514479
googlers397514479
pharmgkbrs397514479
gwascentralrs397514479
openSNPrs397514479
23andMers397514479
23andMe allrs397514479
SNP Nexus

SNPshotrs397514479
SNPdbers397514479
MSV3drs397514479
GWAS Ctlgrs397514479
Max Magnitude0
ClinVar
Risk rs397514479(A;A)
Alt rs397514479(A;A)
Reference rs397514479(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ6 ENTPD5
CLNDBN Coenzyme Q10 deficiency, primary, 6
Reversed 0
HGVS NC_000014.8:g.74428042C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024300.3,