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rs119468005

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119468005(C;T)
Make rs119468005(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position226965719
GeneADCK3
is asnp
is mentioned by
dbSNPrs119468005
ebirs119468005
HLIrs119468005
Exacrs119468005
Varsomers119468005
Maprs119468005
PheGenIrs119468005
hapmaprs119468005
1000 genomesrs119468005
hgdprs119468005
ensemblrs119468005
gopubmedrs119468005
geneviewrs119468005
scholarrs119468005
googlers119468005
pharmgkbrs119468005
gwascentralrs119468005
openSNPrs119468005
23andMers119468005
23andMe allrs119468005
SNP Nexus

SNPshotrs119468005
SNPdbers119468005
MSV3drs119468005
GWAS Ctlgrs119468005
Max Magnitude0
OMIM606980
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119468005(T;T)
Alt rs119468005(T;T)
Reference rs119468005(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227153420C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003822.3,