rs606231138

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	5.6	Coenzyme Q10 Deficiency; severity varies
(C;T)	3	Carrier of a coenzyme Q10 deficiency mutation
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

226984237

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs606231138
dbSNP (classic)	rs606231138
ClinGen	rs606231138
ebi	rs606231138
HLI	rs606231138
Exac	rs606231138
Gnomad	rs606231138
Varsome	rs606231138
LitVar	rs606231138
Map	rs606231138
PheGenI	rs606231138
Biobank	rs606231138
1000 genomes	rs606231138
hgdp	rs606231138
ensembl	rs606231138
geneview	rs606231138
scholar	rs606231138
google	rs606231138
pharmgkb	rs606231138
gwascentral	rs606231138
openSNP	rs606231138
23andMe	rs606231138
SNPshot	rs606231138
SNPdbe	rs606231138
MSV3d	rs606231138
GWAS Ctlg	rs606231138

Max Magnitude

5.6

ClinVar
Risk	Rs606231138(C;C)
Alt	Rs606231138(C;C)
Reference	Rs606231138(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.227171938T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003826.5,