rs121918233

Orientation

minus

Stabilized

minus

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

Make rs121918233(A;A)

Make rs121918233(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

83279081

Gene

COQ2

is a	snp
is	mentioned by
dbSNP	rs121918233
dbSNP (classic)	rs121918233
ClinGen	rs121918233
ebi	rs121918233
HLI	rs121918233
Exac	rs121918233
Gnomad	rs121918233
Varsome	rs121918233
LitVar	rs121918233
Map	rs121918233
PheGenI	rs121918233
Biobank	rs121918233
1000 genomes	rs121918233
hgdp	rs121918233
ensembl	rs121918233
geneview	rs121918233
scholar	rs121918233
google	rs121918233
pharmgkb	rs121918233
gwascentral	rs121918233
openSNP	rs121918233
23andMe	rs121918233
SNPshot	rs121918233
SNPdbe	rs121918233
MSV3d	rs121918233
GWAS Ctlg	rs121918233

Max Magnitude

0

OMIM	609825
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918233(A;A)
Alt	rs121918233(A;A)
Reference	Rs121918233(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.84200234C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001505.3, RCV000416406.1,