rs1057519351

Orientation

plus

Stabilized

plus

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

Make rs1057519351(A;A)

Make rs1057519351(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73961867

Gene	COQ6, ENTPD5

is a	snp
is	mentioned by
dbSNP	rs1057519351
dbSNP (classic)	rs1057519351
ClinGen	rs1057519351
ebi	rs1057519351
HLI	rs1057519351
Exac	rs1057519351
Gnomad	rs1057519351
Varsome	rs1057519351
LitVar	rs1057519351
Map	rs1057519351
PheGenI	rs1057519351
Biobank	rs1057519351
1000 genomes	rs1057519351
hgdp	rs1057519351
ensembl	rs1057519351
geneview	rs1057519351
scholar	rs1057519351
google	rs1057519351
pharmgkb	rs1057519351
gwascentral	rs1057519351
openSNP	rs1057519351
23andMe	rs1057519351
SNPshot	rs1057519351
SNPdbe	rs1057519351
MSV3d	rs1057519351
GWAS Ctlg	rs1057519351

Max Magnitude

0

ClinVar
Risk	rs1057519351(A;A)
Alt	rs1057519351(A;A)
Reference	Rs1057519351(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.74428570G>A
CLNSRC
CLNACC	RCV000416396.1,