rs797045217

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

226984171

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs797045217
dbSNP (classic)	rs797045217
ClinGen	rs797045217
ebi	rs797045217
HLI	rs797045217
Exac	rs797045217
Gnomad	rs797045217
Varsome	rs797045217
LitVar	rs797045217
Map	rs797045217
PheGenI	rs797045217
Biobank	rs797045217
1000 genomes	rs797045217
hgdp	rs797045217
ensembl	rs797045217
geneview	rs797045217
scholar	rs797045217
google	rs797045217
pharmgkb	rs797045217
gwascentral	rs797045217
openSNP	rs797045217
23andMe	rs797045217
SNPshot	rs797045217
SNPdbe	rs797045217
MSV3d	rs797045217
GWAS Ctlg	rs797045217

Max Magnitude

5.6

ClinVar
Risk	Rs797045217(-;-)
Alt	Rs797045217(-;-)
Reference	Rs797045217(CA;CA)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227171872_227171873delCA
CLNSRC
CLNACC	RCV000193346.1,