rs1085307053

Orientation

plus

Stabilized

plus

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

Chromosome

1

Position

226982961

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs1085307053
dbSNP (classic)	rs1085307053
ClinGen	rs1085307053
ebi	rs1085307053
HLI	rs1085307053
Exac	rs1085307053
Gnomad	rs1085307053
Varsome	rs1085307053
LitVar	rs1085307053
Map	rs1085307053
PheGenI	rs1085307053
Biobank	rs1085307053
1000 genomes	rs1085307053
hgdp	rs1085307053
ensembl	rs1085307053
geneview	rs1085307053
scholar	rs1085307053
google	rs1085307053
pharmgkb	rs1085307053
gwascentral	rs1085307053
openSNP	rs1085307053
23andMe	rs1085307053
SNPshot	rs1085307053
SNPdbe	rs1085307053
MSV3d	rs1085307053
GWAS Ctlg	rs1085307053

Max Magnitude

0

ClinVar
Risk	rs1085307053(-;-)
Alt	rs1085307053(-;-)
Reference	Rs1085307053(T;T)
Significance	Probable-Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227170662delT
CLNSRC
CLNACC	RCV000490281.1,