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rs121918231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918231(A;A)
Make rs121918231(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position83273598
GeneCOQ2
is asnp
is mentioned by
dbSNPrs121918231
ebirs121918231
HLIrs121918231
Exacrs121918231
Varsomers121918231
Maprs121918231
PheGenIrs121918231
hapmaprs121918231
1000 genomesrs121918231
hgdprs121918231
ensemblrs121918231
gopubmedrs121918231
geneviewrs121918231
scholarrs121918231
googlers121918231
pharmgkbrs121918231
gwascentralrs121918231
openSNPrs121918231
23andMers121918231
23andMe allrs121918231
SNP Nexus

SNPshotrs121918231
SNPdbers121918231
MSV3drs121918231
GWAS Ctlgrs121918231
Max Magnitude0
OMIM609825
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918231(A;A)
Alt rs121918231(A;A)
Reference rs121918231(G;G)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ2
CLNDBN Coenzyme Q10 deficiency, primary 1
Reversed 1
HGVS NC_000004.11:g.84194751C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001503.3,