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rs189840848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs189840848(C;G)
Make rs189840848(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position73958149
GeneCOQ6
is asnp
is mentioned by
dbSNPrs189840848
ebirs189840848
HLIrs189840848
Exacrs189840848
Varsomers189840848
Maprs189840848
PheGenIrs189840848
hapmaprs189840848
1000 genomesrs189840848
hgdprs189840848
ensemblrs189840848
gopubmedrs189840848
geneviewrs189840848
scholarrs189840848
googlers189840848
pharmgkbrs189840848
gwascentralrs189840848
openSNPrs189840848
23andMers189840848
23andMe allrs189840848
SNP Nexus

SNPshotrs189840848
SNPdbers189840848
MSV3drs189840848
GWAS Ctlgrs189840848
Max Magnitude0
ClinVar
Risk rs189840848(G,T;G,T)
Alt rs189840848(G,T;G,T)
Reference rs189840848(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ6
CLNDBN Coenzyme Q10 deficiency, primary, 6
Reversed 0
HGVS NC_000014.8:g.74424852C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024303.3,