rs747150601

Orientation

plus

Stabilized

plus

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

Make rs747150601(A;A)

Make rs747150601(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

226983607

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs747150601
dbSNP (classic)	rs747150601
ClinGen	rs747150601
ebi	rs747150601
HLI	rs747150601
Exac	rs747150601
Gnomad	rs747150601
Varsome	rs747150601
LitVar	rs747150601
Map	rs747150601
PheGenI	rs747150601
Biobank	rs747150601
1000 genomes	rs747150601
hgdp	rs747150601
ensembl	rs747150601
geneview	rs747150601
scholar	rs747150601
google	rs747150601
pharmgkb	rs747150601
gwascentral	rs747150601
openSNP	rs747150601
23andMe	rs747150601
SNPshot	rs747150601
SNPdbe	rs747150601
MSV3d	rs747150601
GWAS Ctlg	rs747150601

Max Magnitude

0

ClinVar
Risk	rs747150601(A;A)
Alt	rs747150601(A;A)
Reference	Rs747150601(T;T)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227171308T>A
CLNSRC
CLNACC	RCV000416409.1,