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rs104894632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894632(A;A)
Make rs104894632(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position64477929
GeneMILR1, POLG2
is asnp
is mentioned by
dbSNPrs104894632
ebirs104894632
HLIrs104894632
Exacrs104894632
Varsomers104894632
Maprs104894632
PheGenIrs104894632
hapmaprs104894632
1000 genomesrs104894632
hgdprs104894632
ensemblrs104894632
gopubmedrs104894632
geneviewrs104894632
scholarrs104894632
googlers104894632
pharmgkbrs104894632
gwascentralrs104894632
openSNPrs104894632
23andMers104894632
23andMe allrs104894632
SNP Nexus

SNPshotrs104894632
SNPdbers104894632
MSV3drs104894632
GWAS Ctlgrs104894632
Max Magnitude0
OMIM604983
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894632(A;A)
Alt rs104894632(A;A)
Reference rs104894632(G;G)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Variation info
Gene MILR1 POLG2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Reversed 1
HGVS NC_000017.10:g.62474046C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005594.3,