Rs111033576

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033576(C;C)
Make rs111033576(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989271
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs111033576
PheGenIrs111033576
nextbiors111033576
hapmaprs111033576
1000 genomesrs111033576
hgdprs111033576
ensemblrs111033576
gopubmedrs111033576
geneviewrs111033576
scholarrs111033576
googlers111033576
pharmgkbrs111033576
gwascentralrs111033576
openSNPrs111033576
23andMers111033576
23andMe allrs111033576
SNP Nexus

SNPshotrs111033576
SNPdbers111033576
MSV3drs111033576
Max Magnitude0
OMIM606075
Desc
Variant0006
Relatedalso
ClinVar
Risk rs111033576(C;C)
Alt rs111033576(C;C)
Reference rs111033576(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.102749028G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004884.1,