rs119468006

Orientation

plus

Stabilized

plus

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

Make rs119468006(G;T)

Make rs119468006(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

226982111

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs119468006
dbSNP (classic)	rs119468006
ClinGen	rs119468006
ebi	rs119468006
HLI	rs119468006
Exac	rs119468006
Gnomad	rs119468006
Varsome	rs119468006
LitVar	rs119468006
Map	rs119468006
PheGenI	rs119468006
Biobank	rs119468006
1000 genomes	rs119468006
hgdp	rs119468006
ensembl	rs119468006
geneview	rs119468006
scholar	rs119468006
google	rs119468006
pharmgkb	rs119468006
gwascentral	rs119468006
openSNP	rs119468006
23andMe	rs119468006
SNPshot	rs119468006
SNPdbe	rs119468006
MSV3d	rs119468006
GWAS Ctlg	rs119468006

Max Magnitude

0

OMIM	606980
Desc
Variant	0003
Related	also

OMIM	606980
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119468006(A;A) rs119468006(T;T)
Alt	rs119468006(A;A) rs119468006(T;T)
Reference	Rs119468006(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.227169812G>A; NC_000001.10:g.227169812G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003824.5, RCV000003823.4,