rs119468009

Orientation

plus

Stabilized

plus

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

Make rs119468009(A;A)

Make rs119468009(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226985326

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs119468009
dbSNP (classic)	rs119468009
ClinGen	rs119468009
ebi	rs119468009
HLI	rs119468009
Exac	rs119468009
Gnomad	rs119468009
Varsome	rs119468009
LitVar	rs119468009
Map	rs119468009
PheGenI	rs119468009
Biobank	rs119468009
1000 genomes	rs119468009
hgdp	rs119468009
ensembl	rs119468009
geneview	rs119468009
scholar	rs119468009
google	rs119468009
pharmgkb	rs119468009
gwascentral	rs119468009
openSNP	rs119468009
23andMe	rs119468009
SNPshot	rs119468009
SNPdbe	rs119468009
MSV3d	rs119468009
GWAS Ctlg	rs119468009

Max Magnitude

0

OMIM	606980
Desc
Variant	0011
Related	also

ClinVar
Risk	rs119468009(A;A)
Alt	rs119468009(A;A)
Reference	Rs119468009(G;G)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227173027G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003831.4,