rs145034527

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

226982107

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs145034527
dbSNP (classic)	rs145034527
ClinGen	rs145034527
ebi	rs145034527
HLI	rs145034527
Exac	rs145034527
Gnomad	rs145034527
Varsome	rs145034527
LitVar	rs145034527
Map	rs145034527
PheGenI	rs145034527
Biobank	rs145034527
1000 genomes	rs145034527
hgdp	rs145034527
ensembl	rs145034527
geneview	rs145034527
scholar	rs145034527
google	rs145034527
pharmgkb	rs145034527
gwascentral	rs145034527
openSNP	rs145034527
23andMe	rs145034527
SNPshot	rs145034527
SNPdbe	rs145034527
MSV3d	rs145034527
GWAS Ctlg	rs145034527

Max Magnitude

5.6

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,