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rs119468009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119468009(A;A)
Make rs119468009(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position226985326
GeneADCK3
is asnp
is mentioned by
dbSNPrs119468009
ebirs119468009
HLIrs119468009
Exacrs119468009
Varsomers119468009
Maprs119468009
PheGenIrs119468009
hapmaprs119468009
1000 genomesrs119468009
hgdprs119468009
ensemblrs119468009
gopubmedrs119468009
geneviewrs119468009
scholarrs119468009
googlers119468009
pharmgkbrs119468009
gwascentralrs119468009
openSNPrs119468009
23andMers119468009
23andMe allrs119468009
SNP Nexus

SNPshotrs119468009
SNPdbers119468009
MSV3drs119468009
GWAS Ctlgrs119468009
Max Magnitude0
OMIM606980
Desc
Variant0011
Relatedalso
ClinVar
Risk rs119468009(A;A)
Alt rs119468009(A;A)
Reference rs119468009(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.227173027G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003831.2,