rs201908721

Orientation

plus

Stabilized

plus

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

Make rs201908721(C;T)

Make rs201908721(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

226982719

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs201908721
dbSNP (classic)	rs201908721
ClinGen	rs201908721
ebi	rs201908721
HLI	rs201908721
Exac	rs201908721
Gnomad	rs201908721
Varsome	rs201908721
LitVar	rs201908721
Map	rs201908721
PheGenI	rs201908721
Biobank	rs201908721
1000 genomes	rs201908721
hgdp	rs201908721
ensembl	rs201908721
geneview	rs201908721
scholar	rs201908721
google	rs201908721
pharmgkb	rs201908721
gwascentral	rs201908721
openSNP	rs201908721
23andMe	rs201908721
SNPshot	rs201908721
SNPdbe	rs201908721
MSV3d	rs201908721
GWAS Ctlg	rs201908721

Max Magnitude

0

ClinVar
Risk	rs201908721(T;T)
Alt	rs201908721(T;T)
Reference	Rs201908721(C;C)
Significance	Pathogenic
Disease	not provided Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	not provided Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227170420C>T
CLNSRC
CLNACC	RCV000413531.1, RCV000416388.1,