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rs121918232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918232(A;G)
Make rs121918232(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position83273505
GeneCOQ2
is asnp
is mentioned by
dbSNPrs121918232
ebirs121918232
HLIrs121918232
Exacrs121918232
Varsomers121918232
Maprs121918232
PheGenIrs121918232
hapmaprs121918232
1000 genomesrs121918232
hgdprs121918232
ensemblrs121918232
gopubmedrs121918232
geneviewrs121918232
scholarrs121918232
googlers121918232
pharmgkbrs121918232
gwascentralrs121918232
openSNPrs121918232
23andMers121918232
23andMe allrs121918232
SNP Nexus

SNPshotrs121918232
SNPdbers121918232
MSV3drs121918232
GWAS Ctlgrs121918232
Max Magnitude0
OMIM609825
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918232(G;G)
Alt rs121918232(G;G)
Reference rs121918232(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.84194658T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001504.4,