rs119468004

Orientation

plus

Stabilized

plus

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

Make rs119468004(A;A)

Make rs119468004(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226985332

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs119468004
dbSNP (classic)	rs119468004
ClinGen	rs119468004
ebi	rs119468004
HLI	rs119468004
Exac	rs119468004
Gnomad	rs119468004
Varsome	rs119468004
LitVar	rs119468004
Map	rs119468004
PheGenI	rs119468004
Biobank	rs119468004
1000 genomes	rs119468004
hgdp	rs119468004
ensembl	rs119468004
geneview	rs119468004
scholar	rs119468004
google	rs119468004
pharmgkb	rs119468004
gwascentral	rs119468004
openSNP	rs119468004
23andMe	rs119468004
SNPshot	rs119468004
SNPdbe	rs119468004
MSV3d	rs119468004
GWAS Ctlg	rs119468004

Max Magnitude

0

OMIM	606980
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119468004(A;A) rs119468004(C;C)
Alt	rs119468004(A;A) rs119468004(C;C)
Reference	Rs119468004(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.227173033G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003821.4, RCV000201953.1,