Rs111033572

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Orientationplus
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
GeneC10orf2
Chromosome10
Orientationplus
Position102749580
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033572(C;C)
Make rs111033572(C;G)
OMIM606075
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033572(C;C)
Alt rs111033572(C;C)
Reference rs111033572(G;G)
Significance 5
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar info
Gene C10orf2
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Reversed 0
CLNHGVS NC_000010.10:g.102749580G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004880.1