Rs111033579

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033579(C;T)
Make rs111033579(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989316
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs111033579
Exacrs111033579
PheGenIrs111033579
nextbiors111033579
hapmaprs111033579
1000 genomesrs111033579
hgdprs111033579
ensemblrs111033579
gopubmedrs111033579
geneviewrs111033579
scholarrs111033579
googlers111033579
pharmgkbrs111033579
gwascentralrs111033579
openSNPrs111033579
23andMers111033579
23andMe allrs111033579
SNP Nexus

SNPshotrs111033579
SNPdbers111033579
MSV3drs111033579
OMIM606075
Desc
Variant0009
Relatedalso
ClinVar
Risk rs111033579(A,T;A,T)
Alt rs111033579(A,T;A,T)
Reference rs111033579(C;C)
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.102749073C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004887.1,