rs119468008

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs119468008(A;G)

Make rs119468008(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226984910

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs119468008
dbSNP (classic)	rs119468008
ClinGen	rs119468008
ebi	rs119468008
HLI	rs119468008
Exac	rs119468008
Gnomad	rs119468008
Varsome	rs119468008
LitVar	rs119468008
Map	rs119468008
PheGenI	rs119468008
Biobank	rs119468008
1000 genomes	rs119468008
hgdp	rs119468008
ensembl	rs119468008
geneview	rs119468008
scholar	rs119468008
google	rs119468008
pharmgkb	rs119468008
gwascentral	rs119468008
openSNP	rs119468008
23andMe	rs119468008
SNPshot	rs119468008
SNPdbe	rs119468008
MSV3d	rs119468008
GWAS Ctlg	rs119468008

Max Magnitude

0

OMIM	606980
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119468008(G;G)
Alt	rs119468008(G;G)
Reference	Rs119468008(A;A)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227172611A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003828.5,