rs752130338

Orientation

plus

Stabilized

plus

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

Make rs752130338(A;A)

Make rs752130338(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

226986637

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs752130338
dbSNP (classic)	rs752130338
ClinGen	rs752130338
ebi	rs752130338
HLI	rs752130338
Exac	rs752130338
Gnomad	rs752130338
Varsome	rs752130338
LitVar	rs752130338
Map	rs752130338
PheGenI	rs752130338
Biobank	rs752130338
1000 genomes	rs752130338
hgdp	rs752130338
ensembl	rs752130338
geneview	rs752130338
scholar	rs752130338
google	rs752130338
pharmgkb	rs752130338
gwascentral	rs752130338
openSNP	rs752130338
23andMe	rs752130338
SNPshot	rs752130338
SNPdbe	rs752130338
MSV3d	rs752130338
GWAS Ctlg	rs752130338

Max Magnitude

0

ClinVar
Risk	rs752130338(A;A) rs752130338(C;C)
Alt	rs752130338(A;A) rs752130338(C;C)
Reference	Rs752130338(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.227174338G>A
CLNSRC
CLNACC	RCV000416410.1,