rs121918230

Orientation

minus

Stabilized

minus

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

Make rs121918230(A;G)

Make rs121918230(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

83269882

Gene

COQ2

is a	snp
is	mentioned by
dbSNP	rs121918230
dbSNP (classic)	rs121918230
ClinGen	rs121918230
ebi	rs121918230
HLI	rs121918230
Exac	rs121918230
Gnomad	rs121918230
Varsome	rs121918230
LitVar	rs121918230
Map	rs121918230
PheGenI	rs121918230
Biobank	rs121918230
1000 genomes	rs121918230
hgdp	rs121918230
ensembl	rs121918230
geneview	rs121918230
scholar	rs121918230
google	rs121918230
pharmgkb	rs121918230
gwascentral	rs121918230
openSNP	rs121918230
23andMe	rs121918230
SNPshot	rs121918230
SNPdbe	rs121918230
MSV3d	rs121918230
GWAS Ctlg	rs121918230

Max Magnitude

0

OMIM	609825
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918230(G;G)
Alt	rs121918230(G;G)
Reference	Rs121918230(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.84191035T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001501.3, RCV000416386.1,