rs121918232

Orientation

minus

Stabilized

minus

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

Make rs121918232(A;G)

Make rs121918232(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

83273505

Gene

COQ2

is a	snp
is	mentioned by
dbSNP	rs121918232
dbSNP (classic)	rs121918232
ClinGen	rs121918232
ebi	rs121918232
HLI	rs121918232
Exac	rs121918232
Gnomad	rs121918232
Varsome	rs121918232
LitVar	rs121918232
Map	rs121918232
PheGenI	rs121918232
Biobank	rs121918232
1000 genomes	rs121918232
hgdp	rs121918232
ensembl	rs121918232
geneview	rs121918232
scholar	rs121918232
google	rs121918232
pharmgkb	rs121918232
gwascentral	rs121918232
openSNP	rs121918232
23andMe	rs121918232
SNPshot	rs121918232
SNPdbe	rs121918232
MSV3d	rs121918232
GWAS Ctlg	rs121918232

Max Magnitude

0

OMIM	609825
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918232(G;G)
Alt	rs121918232(G;G)
Reference	Rs121918232(A;A)
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.84194658T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001504.4, RCV000416407.1,