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rs1057519343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519343(C;C)
Make rs1057519343(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position226984892
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs1057519343
dbSNP (old)rs1057519343
ClinGenrs1057519343
ebirs1057519343
HLIrs1057519343
Exacrs1057519343
Gnomadrs1057519343
Varsomers1057519343
Maprs1057519343
PheGenIrs1057519343
Biobankrs1057519343
1000 genomesrs1057519343
hgdprs1057519343
ensemblrs1057519343
gopubmedrs1057519343
geneviewrs1057519343
scholarrs1057519343
googlers1057519343
pharmgkbrs1057519343
gwascentralrs1057519343
openSNPrs1057519343
23andMers1057519343
23andMe allrs1057519343
SNPshotrs1057519343
SNPdbers1057519343
MSV3drs1057519343
GWAS Ctlgrs1057519343
Max Magnitude0
ClinVar
Risk rs1057519343(C;C)
Alt rs1057519343(C;C)
Reference Rs1057519343(T;T)
Significance Pathogenic
Disease Coenzyme Q10 deficiency
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, primary, 4
Reversed 0
HGVS NC_000001.10:g.227172593T>C
CLNSRC
CLNACC RCV000416402.1,