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rs119468008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119468008(A;G)
Make rs119468008(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position226984910
GeneADCK3
is asnp
is mentioned by
dbSNPrs119468008
ebirs119468008
HLIrs119468008
Exacrs119468008
Varsomers119468008
Maprs119468008
PheGenIrs119468008
hapmaprs119468008
1000 genomesrs119468008
hgdprs119468008
ensemblrs119468008
gopubmedrs119468008
geneviewrs119468008
scholarrs119468008
googlers119468008
pharmgkbrs119468008
gwascentralrs119468008
openSNPrs119468008
23andMers119468008
23andMe allrs119468008
SNP Nexus

SNPshotrs119468008
SNPdbers119468008
MSV3drs119468008
GWAS Ctlgrs119468008
Max Magnitude0
OMIM606980
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119468008(G;G)
Alt rs119468008(G;G)
Reference rs119468008(A;A)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227172611A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003828.3,