rs1057519344

Orientation

plus

Stabilized

plus

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

Make rs1057519344(-;GTA)

Make rs1057519344(GTA;GTA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

226983553

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs1057519344
dbSNP (classic)	rs1057519344
ClinGen	rs1057519344
ebi	rs1057519344
HLI	rs1057519344
Exac	rs1057519344
Gnomad	rs1057519344
Varsome	rs1057519344
LitVar	rs1057519344
Map	rs1057519344
PheGenI	rs1057519344
Biobank	rs1057519344
1000 genomes	rs1057519344
hgdp	rs1057519344
ensembl	rs1057519344
geneview	rs1057519344
scholar	rs1057519344
google	rs1057519344
pharmgkb	rs1057519344
gwascentral	rs1057519344
openSNP	rs1057519344
23andMe	rs1057519344
SNPshot	rs1057519344
SNPdbe	rs1057519344
MSV3d	rs1057519344
GWAS Ctlg	rs1057519344

Max Magnitude

0

ClinVar
Risk	rs1057519344(AGT;AGT)
Alt	rs1057519344(AGT;AGT)
Reference	Rs1057519344(-;-)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Coenzyme Q10 deficiency, primary, 4
Reversed	0
HGVS	NC_000001.10:g.227171252_227171254dupGTA
CLNSRC
CLNACC	RCV000416399.1,