rs606231139

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

226965322

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs606231139
dbSNP (classic)	rs606231139
ClinGen	rs606231139
ebi	rs606231139
HLI	rs606231139
Exac	rs606231139
Gnomad	rs606231139
Varsome	rs606231139
LitVar	rs606231139
Map	rs606231139
PheGenI	rs606231139
Biobank	rs606231139
1000 genomes	rs606231139
hgdp	rs606231139
ensembl	rs606231139
geneview	rs606231139
scholar	rs606231139
google	rs606231139
pharmgkb	rs606231139
gwascentral	rs606231139
openSNP	rs606231139
23andMe	rs606231139
SNPshot	rs606231139
SNPdbe	rs606231139
MSV3d	rs606231139
GWAS Ctlg	rs606231139

Max Magnitude

5.6

ClinVar
Risk	Rs606231139(TTG;TTG)
Alt	Rs606231139(TTG;TTG)
Reference	Rs606231139(AATCCCCTGTTGGGGGCCTCAC;AATCCCCTGTTGGGGGCCTCAC)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227153023_227153044del22insTTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003827.5,