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rs145034527

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 Possible Coenzyme Q10 Deficiency; severity varies
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position226982107
GeneADCK3, COQ8A
is asnp
is mentioned by
dbSNPrs145034527
dbSNP (old)rs145034527
ClinGenrs145034527
ebirs145034527
HLIrs145034527
Exacrs145034527
Gnomadrs145034527
Varsomers145034527
Maprs145034527
PheGenIrs145034527
Biobankrs145034527
1000 genomesrs145034527
hgdprs145034527
ensemblrs145034527
gopubmedrs145034527
geneviewrs145034527
scholarrs145034527
googlers145034527
pharmgkbrs145034527
gwascentralrs145034527
openSNPrs145034527
23andMers145034527
23andMe allrs145034527
SNPshotrs145034527
SNPdbers145034527
MSV3drs145034527
GWAS Ctlgrs145034527
Max Magnitude5.6
ClinVar
Risk Rs145034527(T;T)
Alt Rs145034527(T;T)
Reference Rs145034527(C;C)
Significance Pathogenic
Disease Coenzyme Q10 deficiency Spinocerebellar Ataxia Coenzyme Q10 deficiency not provided
Variation info
Gene COQ8A ADCK3
CLNDBN Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type Spinocerebellar Ataxia, Recessive Coenzyme Q10 deficiency, primary, 4 not provided
Reversed 0
HGVS NC_000001.10:g.227169808C>T
CLNSRC Illumina
CLNACC RCV000296710.1, RCV000388682.1, RCV000416392.1, RCV000493536.1,