Rs111033572

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033572(C;C)
Make rs111033572(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989823
GeneC10orf2
is asnp
is mentioned by
dbSNPrs111033572
PheGenIrs111033572
nextbiors111033572
hapmaprs111033572
1000 genomesrs111033572
hgdprs111033572
ensemblrs111033572
gopubmedrs111033572
geneviewrs111033572
scholarrs111033572
googlers111033572
pharmgkbrs111033572
gwascentralrs111033572
openSNPrs111033572
23andMers111033572
23andMe allrs111033572
SNP Nexus

SNPshotrs111033572
SNPdbers111033572
MSV3drs111033572
Max Magnitude0
OMIM606075
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033572(C;C)
Alt rs111033572(C;C)
Reference rs111033572(G;G)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Variation info
Gene C10orf2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Reversed 0
HGVS NC_000010.10:g.102749580G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004880.1,