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rs119468006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119468006(G;T)
Make rs119468006(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226982111
GeneADCK3
is asnp
is mentioned by
dbSNPrs119468006
ebirs119468006
HLIrs119468006
Exacrs119468006
Varsomers119468006
Maprs119468006
PheGenIrs119468006
hapmaprs119468006
1000 genomesrs119468006
hgdprs119468006
ensemblrs119468006
gopubmedrs119468006
geneviewrs119468006
scholarrs119468006
googlers119468006
pharmgkbrs119468006
gwascentralrs119468006
openSNPrs119468006
23andMers119468006
23andMe allrs119468006
SNP Nexus

SNPshotrs119468006
SNPdbers119468006
MSV3drs119468006
GWAS Ctlgrs119468006
Max Magnitude0
OMIM606980
Desc
Variant0003
Relatedalso
OMIM606980
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119468006(A,T;A,T)
Alt rs119468006(A,T;A,T)
Reference rs119468006(G;G)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227169812G>A; NC_000001.10:g.227169812G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003824.3, RCV000003823.2,