rs1057519348

Orientation

minus

Stabilized

minus

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

Make rs1057519348(G;G)

Make rs1057519348(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

83278973

Gene

COQ2

is a	snp
is	mentioned by
dbSNP	rs1057519348
dbSNP (classic)	rs1057519348
ClinGen	rs1057519348
ebi	rs1057519348
HLI	rs1057519348
Exac	rs1057519348
Gnomad	rs1057519348
Varsome	rs1057519348
LitVar	rs1057519348
Map	rs1057519348
PheGenI	rs1057519348
Biobank	rs1057519348
1000 genomes	rs1057519348
hgdp	rs1057519348
ensembl	rs1057519348
geneview	rs1057519348
scholar	rs1057519348
google	rs1057519348
pharmgkb	rs1057519348
gwascentral	rs1057519348
openSNP	rs1057519348
23andMe	rs1057519348
SNPshot	rs1057519348
SNPdbe	rs1057519348
MSV3d	rs1057519348
GWAS Ctlg	rs1057519348

Max Magnitude

0

ClinVar
Risk	rs1057519348(G;G)
Alt	rs1057519348(G;G)
Reference	Rs1057519348(T;T)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ2
CLNDBN	Coenzyme Q10 deficiency, primary
Reversed	1
HGVS	NC_000004.11:g.84200126A>C
CLNSRC
CLNACC	RCV000416391.1,