rs119468005

Orientation

plus

Stabilized

plus

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

Make rs119468005(C;T)

Make rs119468005(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226965719

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs119468005
dbSNP (classic)	rs119468005
ClinGen	rs119468005
ebi	rs119468005
HLI	rs119468005
Exac	rs119468005
Gnomad	rs119468005
Varsome	rs119468005
LitVar	rs119468005
Map	rs119468005
PheGenI	rs119468005
Biobank	rs119468005
1000 genomes	rs119468005
hgdp	rs119468005
ensembl	rs119468005
geneview	rs119468005
scholar	rs119468005
google	rs119468005
pharmgkb	rs119468005
gwascentral	rs119468005
openSNP	rs119468005
23andMe	rs119468005
SNPshot	rs119468005
SNPdbe	rs119468005
MSV3d	rs119468005
GWAS Ctlg	rs119468005

Max Magnitude

0

OMIM	606980
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119468005(T;T)
Alt	rs119468005(T;T)
Reference	Rs119468005(C;C)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227153420C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003822.5,