rs1057519343

Orientation

plus

Stabilized

plus

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

Make rs1057519343(C;C)

Make rs1057519343(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

226984892

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs1057519343
dbSNP (classic)	rs1057519343
ClinGen	rs1057519343
ebi	rs1057519343
HLI	rs1057519343
Exac	rs1057519343
Gnomad	rs1057519343
Varsome	rs1057519343
LitVar	rs1057519343
Map	rs1057519343
PheGenI	rs1057519343
Biobank	rs1057519343
1000 genomes	rs1057519343
hgdp	rs1057519343
ensembl	rs1057519343
geneview	rs1057519343
scholar	rs1057519343
google	rs1057519343
pharmgkb	rs1057519343
gwascentral	rs1057519343
openSNP	rs1057519343
23andMe	rs1057519343
SNPshot	rs1057519343
SNPdbe	rs1057519343
MSV3d	rs1057519343
GWAS Ctlg	rs1057519343

Max Magnitude

0

ClinVar
Risk	rs1057519343(C;C)
Alt	rs1057519343(C;C)
Reference	Rs1057519343(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.227172593T>C
CLNSRC
CLNACC	RCV000416402.1,