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rs137852956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852956(A;A)
Make rs137852956(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989118
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs137852956
ebirs137852956
HLIrs137852956
Exacrs137852956
Varsomers137852956
Maprs137852956
PheGenIrs137852956
hapmaprs137852956
1000 genomesrs137852956
hgdprs137852956
ensemblrs137852956
gopubmedrs137852956
geneviewrs137852956
scholarrs137852956
googlers137852956
pharmgkbrs137852956
gwascentralrs137852956
openSNPrs137852956
23andMers137852956
23andMe allrs137852956
SNP Nexus

SNPshotrs137852956
SNPdbers137852956
MSV3drs137852956
GWAS Ctlgrs137852956
Max Magnitude0
OMIM606075
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852956(A;A)
Alt rs137852956(A;A)
Reference rs137852956(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.102748875G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004891.5,