Rs111033577

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033577(G;G)
Make rs111033577(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989352
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs111033577
PheGenIrs111033577
nextbiors111033577
hapmaprs111033577
1000 genomesrs111033577
hgdprs111033577
ensemblrs111033577
gopubmedrs111033577
geneviewrs111033577
scholarrs111033577
googlers111033577
pharmgkbrs111033577
gwascentralrs111033577
openSNPrs111033577
23andMers111033577
23andMe allrs111033577
SNP Nexus

SNPshotrs111033577
SNPdbers111033577
MSV3drs111033577
Max Magnitude0
OMIM606075
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033577(C,G;C,G)
Alt rs111033577(C,G;C,G)
Reference rs111033577(T;T)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Variation info
Gene MRPL43 C10orf2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Reversed 0
HGVS NC_000010.10:g.102749109T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004885.1,