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rs863223885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223885(-;G)
Make rs863223885(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226986637
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs863223885
dbSNP (classic)rs863223885
ClinGenrs863223885
ebirs863223885
HLIrs863223885
Exacrs863223885
Gnomadrs863223885
Varsomers863223885
LitVarrs863223885
Maprs863223885
PheGenIrs863223885
Biobankrs863223885
1000 genomesrs863223885
hgdprs863223885
ensemblrs863223885
geneviewrs863223885
scholarrs863223885
googlers863223885
pharmgkbrs863223885
gwascentralrs863223885
openSNPrs863223885
23andMers863223885
SNPshotrs863223885
SNPdbers863223885
MSV3drs863223885
GWAS Ctlgrs863223885
Max Magnitude0
ClinVar
Risk rs863223885(G;G)
Alt rs863223885(G;G)
Reference Rs863223885(-;-)
Significance Pathogenic
Disease not provided Coenzyme Q10 deficiency
Variation info
Gene COQ8A ADCK3
CLNDBN not provided Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227174338dupG
CLNSRC
CLNACC RCV000195954.1, RCV000416393.1,