rs121918231

Orientation

minus

Stabilized

minus

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

Make rs121918231(A;A)

Make rs121918231(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

83273598

Gene

COQ2

is a	snp
is	mentioned by
dbSNP	rs121918231
dbSNP (classic)	rs121918231
ClinGen	rs121918231
ebi	rs121918231
HLI	rs121918231
Exac	rs121918231
Gnomad	rs121918231
Varsome	rs121918231
LitVar	rs121918231
Map	rs121918231
PheGenI	rs121918231
Biobank	rs121918231
1000 genomes	rs121918231
hgdp	rs121918231
ensembl	rs121918231
geneview	rs121918231
scholar	rs121918231
google	rs121918231
pharmgkb	rs121918231
gwascentral	rs121918231
openSNP	rs121918231
23andMe	rs121918231
SNPshot	rs121918231
SNPdbe	rs121918231
MSV3d	rs121918231
GWAS Ctlg	rs121918231

Max Magnitude

0

OMIM	609825
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918231(A;A)
Alt	rs121918231(A;A)
Reference	Rs121918231(G;G)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency Coenzyme Q10 deficiency
Variation	info
Gene	COQ2
CLNDBN	Coenzyme Q10 deficiency, primary 1 Coenzyme Q10 deficiency, primary
Reversed	1
HGVS	NC_000004.11:g.84194751C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001503.3, RCV000416395.1,