rs578189699

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

226984901

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs578189699
dbSNP (classic)	rs578189699
ClinGen	rs578189699
ebi	rs578189699
HLI	rs578189699
Exac	rs578189699
Gnomad	rs578189699
Varsome	rs578189699
LitVar	rs578189699
Map	rs578189699
PheGenI	rs578189699
Biobank	rs578189699
1000 genomes	rs578189699
hgdp	rs578189699
ensembl	rs578189699
geneview	rs578189699
scholar	rs578189699
google	rs578189699
pharmgkb	rs578189699
gwascentral	rs578189699
openSNP	rs578189699
23andMe	rs578189699
SNPshot	rs578189699
SNPdbe	rs578189699
MSV3d	rs578189699
GWAS Ctlg	rs578189699

Max Magnitude

5.6

ClinVar
Risk	Rs578189699(T;T)
Alt	Rs578189699(T;T)
Reference	Rs578189699(C;C)
Significance	Probable-Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227172602C>T
CLNSRC
CLNACC	RCV000194388.1,