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rs121918233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918233(A;A)
Make rs121918233(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position83279081
GeneCOQ2
is asnp
is mentioned by
dbSNPrs121918233
ebirs121918233
HLIrs121918233
Exacrs121918233
Varsomers121918233
Maprs121918233
PheGenIrs121918233
hapmaprs121918233
1000 genomesrs121918233
hgdprs121918233
ensemblrs121918233
gopubmedrs121918233
geneviewrs121918233
scholarrs121918233
googlers121918233
pharmgkbrs121918233
gwascentralrs121918233
openSNPrs121918233
23andMers121918233
23andMe allrs121918233
SNP Nexus

SNPshotrs121918233
SNPdbers121918233
MSV3drs121918233
GWAS Ctlgrs121918233
Max Magnitude0
OMIM609825
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918233(A;A)
Alt rs121918233(A;A)
Reference rs121918233(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.84200234C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001505.3,