rs1057519349

Orientation

plus

Stabilized

plus

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

Make rs1057519349(A;A)

Make rs1057519349(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

73958229

Gene	COQ6, ENTPD5

is a	snp
is	mentioned by
dbSNP	rs1057519349
dbSNP (classic)	rs1057519349
ClinGen	rs1057519349
ebi	rs1057519349
HLI	rs1057519349
Exac	rs1057519349
Gnomad	rs1057519349
Varsome	rs1057519349
LitVar	rs1057519349
Map	rs1057519349
PheGenI	rs1057519349
Biobank	rs1057519349
1000 genomes	rs1057519349
hgdp	rs1057519349
ensembl	rs1057519349
geneview	rs1057519349
scholar	rs1057519349
google	rs1057519349
pharmgkb	rs1057519349
gwascentral	rs1057519349
openSNP	rs1057519349
23andMe	rs1057519349
SNPshot	rs1057519349
SNPdbe	rs1057519349
MSV3d	rs1057519349
GWAS Ctlg	rs1057519349

Max Magnitude

0

ClinVar
Risk	rs1057519349(A;A)
Alt	rs1057519349(A;A)
Reference	Rs1057519349(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.74424932G>A
CLNSRC
CLNACC	RCV000416383.1,