rs1057519350

Orientation

plus

Stabilized

plus

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

Make rs1057519350(A;A)

Make rs1057519350(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73959204

Gene	COQ6, ENTPD5

is a	snp
is	mentioned by
dbSNP	rs1057519350
dbSNP (classic)	rs1057519350
ClinGen	rs1057519350
ebi	rs1057519350
HLI	rs1057519350
Exac	rs1057519350
Gnomad	rs1057519350
Varsome	rs1057519350
LitVar	rs1057519350
Map	rs1057519350
PheGenI	rs1057519350
Biobank	rs1057519350
1000 genomes	rs1057519350
hgdp	rs1057519350
ensembl	rs1057519350
geneview	rs1057519350
scholar	rs1057519350
google	rs1057519350
pharmgkb	rs1057519350
gwascentral	rs1057519350
openSNP	rs1057519350
23andMe	rs1057519350
SNPshot	rs1057519350
SNPdbe	rs1057519350
MSV3d	rs1057519350
GWAS Ctlg	rs1057519350

Max Magnitude

0

ClinVar
Risk	rs1057519350(A;A)
Alt	rs1057519350(A;A)
Reference	Rs1057519350(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.74425907G>A
CLNSRC
CLNACC	RCV000416398.1,