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rs121918230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918230(A;G)
Make rs121918230(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position83269882
GeneCOQ2
is asnp
is mentioned by
dbSNPrs121918230
ebirs121918230
HLIrs121918230
Exacrs121918230
Varsomers121918230
Maprs121918230
PheGenIrs121918230
hapmaprs121918230
1000 genomesrs121918230
hgdprs121918230
ensemblrs121918230
gopubmedrs121918230
geneviewrs121918230
scholarrs121918230
googlers121918230
pharmgkbrs121918230
gwascentralrs121918230
openSNPrs121918230
23andMers121918230
23andMe allrs121918230
SNP Nexus

SNPshotrs121918230
SNPdbers121918230
MSV3drs121918230
GWAS Ctlgrs121918230
Max Magnitude0
OMIM609825
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918230(G;G)
Alt rs121918230(G;G)
Reference rs121918230(A;A)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ2
CLNDBN Coenzyme Q10 deficiency, primary 1
Reversed 1
HGVS NC_000004.11:g.84191035T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001501.3,