rs397514479

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

73961339

Gene	COQ6, ENTPD5

is a	snp
is	mentioned by
dbSNP	rs397514479
dbSNP (classic)	rs397514479
ClinGen	rs397514479
ebi	rs397514479
HLI	rs397514479
Exac	rs397514479
Gnomad	rs397514479
Varsome	rs397514479
LitVar	rs397514479
Map	rs397514479
PheGenI	rs397514479
Biobank	rs397514479
1000 genomes	rs397514479
hgdp	rs397514479
ensembl	rs397514479
geneview	rs397514479
scholar	rs397514479
google	rs397514479
pharmgkb	rs397514479
gwascentral	rs397514479
openSNP	rs397514479
23andMe	rs397514479
SNPshot	rs397514479
SNPdbe	rs397514479
MSV3d	rs397514479
GWAS Ctlg	rs397514479

Max Magnitude

5.6

ClinVar
Risk	Rs397514479(A;A)
Alt	Rs397514479(A;A)
Reference	Rs397514479(C;C)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ6 ENTPD5
CLNDBN	Coenzyme Q10 deficiency, primary, 6
Reversed	0
HGVS	NC_000014.8:g.74428042C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024300.4,