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rs267606682

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606682(C;T)
Make rs267606682(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989330
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs267606682
ebirs267606682
HLIrs267606682
Exacrs267606682
Varsomers267606682
Maprs267606682
PheGenIrs267606682
hapmaprs267606682
1000 genomesrs267606682
hgdprs267606682
ensemblrs267606682
gopubmedrs267606682
geneviewrs267606682
scholarrs267606682
googlers267606682
pharmgkbrs267606682
gwascentralrs267606682
openSNPrs267606682
23andMers267606682
23andMe allrs267606682
SNP Nexus

SNPshotrs267606682
SNPdbers267606682
MSV3drs267606682
GWAS Ctlgrs267606682
Max Magnitude0
ClinVar
Risk rs267606682(T;T)
Alt rs267606682(T;T)
Reference rs267606682(C;C)
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.102749087C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004892.5,