rs1057519352

Orientation

plus

Stabilized

plus

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

Make rs1057519352(-;-)

Make rs1057519352(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73962975

Gene	COQ6, ENTPD5

is a	snp
is	mentioned by
dbSNP	rs1057519352
dbSNP (classic)	rs1057519352
ClinGen	rs1057519352
ebi	rs1057519352
HLI	rs1057519352
Exac	rs1057519352
Gnomad	rs1057519352
Varsome	rs1057519352
LitVar	rs1057519352
Map	rs1057519352
PheGenI	rs1057519352
Biobank	rs1057519352
1000 genomes	rs1057519352
hgdp	rs1057519352
ensembl	rs1057519352
geneview	rs1057519352
scholar	rs1057519352
google	rs1057519352
pharmgkb	rs1057519352
gwascentral	rs1057519352
openSNP	rs1057519352
23andMe	rs1057519352
SNPshot	rs1057519352
SNPdbe	rs1057519352
MSV3d	rs1057519352
GWAS Ctlg	rs1057519352

Max Magnitude

0

ClinVar
Risk	rs1057519352(-;-)
Alt	rs1057519352(-;-)
Reference	Rs1057519352(G;G)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	COQ6 ENTPD5
CLNDBN	Coenzyme Q10 deficiency, primary, 6
Reversed	0
HGVS	NC_000014.8:g.74429678delG
CLNSRC
CLNACC	RCV000416408.1,