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rs119468004

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119468004(A;A)
Make rs119468004(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position226985332
GeneADCK3
is asnp
is mentioned by
dbSNPrs119468004
ebirs119468004
HLIrs119468004
Exacrs119468004
Varsomers119468004
Maprs119468004
PheGenIrs119468004
hapmaprs119468004
1000 genomesrs119468004
hgdprs119468004
ensemblrs119468004
gopubmedrs119468004
geneviewrs119468004
scholarrs119468004
googlers119468004
pharmgkbrs119468004
gwascentralrs119468004
openSNPrs119468004
23andMers119468004
23andMe allrs119468004
SNP Nexus

SNPshotrs119468004
SNPdbers119468004
MSV3drs119468004
GWAS Ctlgrs119468004
Max Magnitude0
OMIM606980
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119468004(A;A)
Alt rs119468004(A;A)
Reference rs119468004(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.227173033G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003821.3, RCV000201953.1,