rs536746349

Orientation

plus

Stabilized

plus

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

Make rs536746349(C;G)

Make rs536746349(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

73950574

Gene

DGUOK

is a	snp
is	mentioned by
dbSNP	rs536746349
dbSNP (classic)	rs536746349
ClinGen	rs536746349
ebi	rs536746349
HLI	rs536746349
Exac	rs536746349
Gnomad	rs536746349
Varsome	rs536746349
LitVar	rs536746349
Map	rs536746349
PheGenI	rs536746349
Biobank	rs536746349
1000 genomes	rs536746349
hgdp	rs536746349
ensembl	rs536746349
geneview	rs536746349
scholar	rs536746349
google	rs536746349
pharmgkb	rs536746349
gwascentral	rs536746349
openSNP	rs536746349
23andMe	rs536746349
SNPshot	rs536746349
SNPdbe	rs536746349
MSV3d	rs536746349
GWAS Ctlg	rs536746349

Max Magnitude

0

ClinVar
Risk	rs536746349(G;G)
Alt	rs536746349(G;G)
Reference	Rs536746349(C;C)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions not provided
Variation	info
Gene	DGUOK
CLNDBN	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 not provided
Reversed	0
HGVS	NC_000002.11:g.74177701C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239560.1, RCV000478803.1,