Rs111033573

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033573(G;T)
Make rs111033573(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989285
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs111033573
Exacrs111033573
PheGenIrs111033573
nextbiors111033573
hapmaprs111033573
1000 genomesrs111033573
hgdprs111033573
ensemblrs111033573
gopubmedrs111033573
geneviewrs111033573
scholarrs111033573
googlers111033573
pharmgkbrs111033573
gwascentralrs111033573
openSNPrs111033573
23andMers111033573
23andMe allrs111033573
SNP Nexus

SNPshotrs111033573
SNPdbers111033573
MSV3drs111033573
OMIM606075
Desc
Variant0003
Relatedalso
ClinVar
Risk rs111033573(A,T;A,T)
Alt rs111033573(A,T;A,T)
Reference rs111033573(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.102749042G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004881.1,