Rs111033575

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033575(A;A)
Make rs111033575(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989154
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs111033575
Exacrs111033575
PheGenIrs111033575
nextbiors111033575
hapmaprs111033575
1000 genomesrs111033575
hgdprs111033575
ensemblrs111033575
gopubmedrs111033575
geneviewrs111033575
scholarrs111033575
googlers111033575
pharmgkbrs111033575
gwascentralrs111033575
openSNPrs111033575
23andMers111033575
23andMe allrs111033575
SNP Nexus

SNPshotrs111033575
SNPdbers111033575
MSV3drs111033575
Max Magnitude0
OMIM606075
Desc
Variant0005
Relatedalso
ClinVar
Risk rs111033575(A,T;A,T)
Alt rs111033575(A,T;A,T)
Reference rs111033575(G;G)
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.102748911G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004883.1,