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rs1085307053

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome1
Position226982961
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs1085307053
dbSNP (old)rs1085307053
ClinGenrs1085307053
ebirs1085307053
HLIrs1085307053
Exacrs1085307053
Gnomadrs1085307053
Varsomers1085307053
Maprs1085307053
PheGenIrs1085307053
Biobankrs1085307053
1000 genomesrs1085307053
hgdprs1085307053
ensemblrs1085307053
gopubmedrs1085307053
geneviewrs1085307053
scholarrs1085307053
googlers1085307053
pharmgkbrs1085307053
gwascentralrs1085307053
openSNPrs1085307053
23andMers1085307053
23andMe allrs1085307053
SNPshotrs1085307053
SNPdbers1085307053
MSV3drs1085307053
GWAS Ctlgrs1085307053
Max Magnitude0
ClinVar
Risk rs1085307053(-;-)
Alt rs1085307053(-;-)
Reference Rs1085307053(T;T)
Significance Probable-Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227170662delT
CLNSRC
CLNACC RCV000490281.1,