rs387906298

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

226986606

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs387906298
dbSNP (classic)	rs387906298
ClinGen	rs387906298
ebi	rs387906298
HLI	rs387906298
Exac	rs387906298
Gnomad	rs387906298
Varsome	rs387906298
LitVar	rs387906298
Map	rs387906298
PheGenI	rs387906298
Biobank	rs387906298
1000 genomes	rs387906298
hgdp	rs387906298
ensembl	rs387906298
geneview	rs387906298
scholar	rs387906298
google	rs387906298
pharmgkb	rs387906298
gwascentral	rs387906298
openSNP	rs387906298
23andMe	rs387906298
SNPshot	rs387906298
SNPdbe	rs387906298
MSV3d	rs387906298
GWAS Ctlg	rs387906298

Max Magnitude

5.6

ClinVar
Risk	Rs387906298(G;G)
Alt	Rs387906298(G;G)
Reference	Rs387906298(-;-)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227174307dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003825.3,