rs387906299

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

226986543

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs387906299
dbSNP (classic)	rs387906299
ClinGen	rs387906299
ebi	rs387906299
HLI	rs387906299
Exac	rs387906299
Gnomad	rs387906299
Varsome	rs387906299
LitVar	rs387906299
Map	rs387906299
PheGenI	rs387906299
Biobank	rs387906299
1000 genomes	rs387906299
hgdp	rs387906299
ensembl	rs387906299
geneview	rs387906299
scholar	rs387906299
google	rs387906299
pharmgkb	rs387906299
gwascentral	rs387906299
openSNP	rs387906299
23andMe	rs387906299
SNPshot	rs387906299
SNPdbe	rs387906299
MSV3d	rs387906299
GWAS Ctlg	rs387906299

Max Magnitude

5.6

ClinVar
Risk	Rs387906299(-;-) Rs387906299(CAC;CAC)
Alt	Rs387906299(-;-) Rs387906299(CAC;CAC)
Reference	Rs387906299(ACC;ACC)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency not provided
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4 not provided
Reversed	0
HGVS	NC_000001.10:g.227174244_227174246delACC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003829.4, RCV000199676.2,