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rs606231138

From SNPedia

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Stabilizedplus
Geno Mag Summary
(C;C) 5.6 Coenzyme Q10 Deficiency; severity varies
(C;T) 3 Carrier of a coenzyme Q10 deficiency mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position226984237
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs606231138
dbSNP (old)rs606231138
ClinGenrs606231138
ebirs606231138
HLIrs606231138
Exacrs606231138
Gnomadrs606231138
Varsomers606231138
Maprs606231138
PheGenIrs606231138
Biobankrs606231138
1000 genomesrs606231138
hgdprs606231138
ensemblrs606231138
gopubmedrs606231138
geneviewrs606231138
scholarrs606231138
googlers606231138
pharmgkbrs606231138
gwascentralrs606231138
openSNPrs606231138
23andMers606231138
23andMe allrs606231138
SNP Nexus

SNPshotrs606231138
SNPdbers606231138
MSV3drs606231138
GWAS Ctlgrs606231138
Max Magnitude5.6
ClinVar
Risk Rs606231138(C;C)
Alt Rs606231138(C;C)
Reference Rs606231138(T;T)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227171938T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003826.5,