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rs144181978

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs144181978(A;A)
Make rs144181978(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position73950603
GeneDGUOK
is asnp
is mentioned by
dbSNPrs144181978
ebirs144181978
HLIrs144181978
Exacrs144181978
Varsomers144181978
Maprs144181978
PheGenIrs144181978
hapmaprs144181978
1000 genomesrs144181978
hgdprs144181978
ensemblrs144181978
gopubmedrs144181978
geneviewrs144181978
scholarrs144181978
googlers144181978
pharmgkbrs144181978
gwascentralrs144181978
openSNPrs144181978
23andMers144181978
23andMe allrs144181978
SNP Nexus

SNPshotrs144181978
SNPdbers144181978
MSV3drs144181978
GWAS Ctlgrs144181978
Max Magnitude0
ClinVar
Risk rs144181978(A;A)
Alt rs144181978(A;A)
Reference rs144181978(T;T)
Significance Pathogenic
Disease not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation info
Gene DGUOK
CLNDBN not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Reversed 0
HGVS NC_000002.11:g.74177730T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000195764.2, RCV000239593.1,