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rs578189699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a coenzyme Q10 deficiency mutation
(T;T) 5.6 Coenzyme Q10 Deficiency; severity varies
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position226984901
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs578189699
dbSNP (old)rs578189699
ClinGenrs578189699
ebirs578189699
HLIrs578189699
Exacrs578189699
Gnomadrs578189699
Varsomers578189699
Maprs578189699
PheGenIrs578189699
Biobankrs578189699
1000 genomesrs578189699
hgdprs578189699
ensemblrs578189699
gopubmedrs578189699
geneviewrs578189699
scholarrs578189699
googlers578189699
pharmgkbrs578189699
gwascentralrs578189699
openSNPrs578189699
23andMers578189699
23andMe allrs578189699
SNP Nexus

SNPshotrs578189699
SNPdbers578189699
MSV3drs578189699
GWAS Ctlgrs578189699
Max Magnitude5.6
ClinVar
Risk Rs578189699(T;T)
Alt Rs578189699(T;T)
Reference Rs578189699(C;C)
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.227172602C>T
CLNSRC
CLNACC RCV000194388.1,