rs774395996

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a coenzyme Q10 deficiency mutation
(T;T)	5.6	Coenzyme Q10 Deficiency; severity varies

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

128332183

Gene

COQ4

is a	snp
is	mentioned by
dbSNP	rs774395996
dbSNP (classic)	rs774395996
ClinGen	rs774395996
ebi	rs774395996
HLI	rs774395996
Exac	rs774395996
Gnomad	rs774395996
Varsome	rs774395996
LitVar	rs774395996
Map	rs774395996
PheGenI	rs774395996
Biobank	rs774395996
1000 genomes	rs774395996
hgdp	rs774395996
ensembl	rs774395996
geneview	rs774395996
scholar	rs774395996
google	rs774395996
pharmgkb	rs774395996
gwascentral	rs774395996
openSNP	rs774395996
23andMe	rs774395996
SNPshot	rs774395996
SNPdbe	rs774395996
MSV3d	rs774395996
GWAS Ctlg	rs774395996

Max Magnitude

5.6

ClinVar
Risk	rs774395996(G;G) Rs774395996(T;T)
Alt	rs774395996(G;G) Rs774395996(T;T)
Reference	Rs774395996(C;C)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ4
CLNDBN	Coenzyme Q10 deficiency, primary, 7
Reversed	0
HGVS	NC_000009.11:g.131094462C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169634.5,