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rs762550967

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762550967(A;A)
Make rs762550967(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73927040
GeneDGUOK
is asnp
is mentioned by
dbSNPrs762550967
ebirs762550967
HLIrs762550967
Exacrs762550967
Varsomers762550967
Maprs762550967
PheGenIrs762550967
hapmaprs762550967
1000 genomesrs762550967
hgdprs762550967
ensemblrs762550967
gopubmedrs762550967
geneviewrs762550967
scholarrs762550967
googlers762550967
pharmgkbrs762550967
gwascentralrs762550967
openSNPrs762550967
23andMers762550967
23andMe allrs762550967
SNP Nexus

SNPshotrs762550967
SNPdbers762550967
MSV3drs762550967
GWAS Ctlgrs762550967
Max Magnitude0
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,