rs189840848

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

Make rs189840848(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

73958149

Gene	COQ6, ENTPD5

is a	snp
is	mentioned by
dbSNP	rs189840848
dbSNP (classic)	rs189840848
ClinGen	rs189840848
ebi	rs189840848
HLI	rs189840848
Exac	rs189840848
Gnomad	rs189840848
Varsome	rs189840848
LitVar	rs189840848
Map	rs189840848
PheGenI	rs189840848
Biobank	rs189840848
1000 genomes	rs189840848
hgdp	rs189840848
ensembl	rs189840848
geneview	rs189840848
scholar	rs189840848
google	rs189840848
pharmgkb	rs189840848
gwascentral	rs189840848
openSNP	rs189840848
23andMe	rs189840848
SNPshot	rs189840848
SNPdbe	rs189840848
MSV3d	rs189840848
GWAS Ctlg	rs189840848

Max Magnitude

5.6

Note presence of both C>G and C>T mutations at this SNP; the C>T is reported as pathogenic, whereas the C>G is not.

ClinVar
Risk	rs189840848(G;G) Rs189840848(T;T)
Alt	rs189840848(G;G) Rs189840848(T;T)
Reference	Rs189840848(C;C)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ6 ENTPD5
CLNDBN	Coenzyme Q10 deficiency, primary, 6
Reversed	0
HGVS	NC_000014.8:g.74424852C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024303.4,