rs762550967

Orientation

plus

Stabilized

plus

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

Make rs762550967(A;A)

Make rs762550967(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

73927040

Gene

DGUOK

is a	snp
is	mentioned by
dbSNP	rs762550967
dbSNP (classic)	rs762550967
ClinGen	rs762550967
ebi	rs762550967
HLI	rs762550967
Exac	rs762550967
Gnomad	rs762550967
Varsome	rs762550967
LitVar	rs762550967
Map	rs762550967
PheGenI	rs762550967
Biobank	rs762550967
1000 genomes	rs762550967
hgdp	rs762550967
ensembl	rs762550967
geneview	rs762550967
scholar	rs762550967
google	rs762550967
pharmgkb	rs762550967
gwascentral	rs762550967
openSNP	rs762550967
23andMe	rs762550967
SNPshot	rs762550967
SNPdbe	rs762550967
MSV3d	rs762550967
GWAS Ctlg	rs762550967

Max Magnitude

0

ClinVar
Risk	rs762550967(A;A)
Alt	rs762550967(A;A)
Reference	Rs762550967(G;G)
Significance	Pathogenic
Disease	Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation	info
Gene	DGUOK
CLNDBN	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Reversed	0
HGVS	NC_000002.11:g.74154167G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239555.1,