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rs74874677

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74874677(A;G)
Make rs74874677(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position73950650
GeneDGUOK
is asnp
is mentioned by
dbSNPrs74874677
ebirs74874677
HLIrs74874677
Exacrs74874677
Varsomers74874677
Maprs74874677
PheGenIrs74874677
hapmaprs74874677
1000 genomesrs74874677
hgdprs74874677
ensemblrs74874677
gopubmedrs74874677
geneviewrs74874677
scholarrs74874677
googlers74874677
pharmgkbrs74874677
gwascentralrs74874677
openSNPrs74874677
23andMers74874677
23andMe allrs74874677
SNP Nexus

SNPshotrs74874677
SNPdbers74874677
MSV3drs74874677
GWAS Ctlgrs74874677
Max Magnitude0
ClinVar
Risk rs74874677(G;G)
Alt rs74874677(G;G)
Reference rs74874677(A;A)
Significance Pathogenic
Disease not specified Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation info
Gene DGUOK
CLNDBN not specified Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Reversed 0
HGVS NC_000002.11:g.74177777A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000124677.1, RCV000239473.1,