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rs28937887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937887(A;A)
Make rs28937887(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989211
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs28937887
ebirs28937887
HLIrs28937887
Exacrs28937887
Varsomers28937887
Maprs28937887
PheGenIrs28937887
hapmaprs28937887
1000 genomesrs28937887
hgdprs28937887
ensemblrs28937887
gopubmedrs28937887
geneviewrs28937887
scholarrs28937887
googlers28937887
pharmgkbrs28937887
gwascentralrs28937887
openSNPrs28937887
23andMers28937887
23andMe allrs28937887
SNP Nexus

SNPshotrs28937887
SNPdbers28937887
MSV3drs28937887
GWAS Ctlgrs28937887
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM606075
DescPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
Variant0008
Relatedalso


ClinVar
Risk rs28937887(A,T;A,T)
Alt rs28937887(A,T;A,T)
Reference rs28937887(G;G)
Significance Pathogenic
Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions
Variation info
Gene MRPL43 C10orf2
CLNDBN Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Reversed 0
HGVS NC_000010.10:g.102748968G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004886.4,