rs786204770

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

128323100

Gene	COQ4, TRUB2

is a	snp
is	mentioned by
dbSNP	rs786204770
dbSNP (classic)	rs786204770
ClinGen	rs786204770
ebi	rs786204770
HLI	rs786204770
Exac	rs786204770
Gnomad	rs786204770
Varsome	rs786204770
LitVar	rs786204770
Map	rs786204770
PheGenI	rs786204770
Biobank	rs786204770
1000 genomes	rs786204770
hgdp	rs786204770
ensembl	rs786204770
geneview	rs786204770
scholar	rs786204770
google	rs786204770
pharmgkb	rs786204770
gwascentral	rs786204770
openSNP	rs786204770
23andMe	rs786204770
SNPshot	rs786204770
SNPdbe	rs786204770
MSV3d	rs786204770
GWAS Ctlg	rs786204770

Max Magnitude

5.6

ClinVar
Risk	Rs786204770(G;G)
Alt	Rs786204770(G;G)
Reference	Rs786204770(A;A)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ4 TRUB2
CLNDBN	Coenzyme Q10 deficiency, primary, 7
Reversed	1
HGVS	NC_000009.11:g.131085379T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169637.5,