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rs121918310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918310(C;T)
Make rs121918310(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position102208210
GeneRRM2B
is asnp
is mentioned by
dbSNPrs121918310
ebirs121918310
HLIrs121918310
Exacrs121918310
Varsomers121918310
Maprs121918310
PheGenIrs121918310
hapmaprs121918310
1000 genomesrs121918310
hgdprs121918310
ensemblrs121918310
gopubmedrs121918310
geneviewrs121918310
scholarrs121918310
googlers121918310
pharmgkbrs121918310
gwascentralrs121918310
openSNPrs121918310
23andMers121918310
23andMe allrs121918310
SNP Nexus

SNPshotrs121918310
SNPdbers121918310
MSV3drs121918310
GWAS Ctlgrs121918310
Max Magnitude0
OMIM604712
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918310(T;T)
Alt rs121918310(T;T)
Reference rs121918310(C;C)
Significance Pathogenic
Disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B-related mitochondrial disease not provided
Variation info
Gene RRM2B
CLNDBN Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B-related mitochondrial disease not provided
Reversed 1
HGVS NC_000008.10:g.103220438G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005722.3, RCV000119016.2, RCV000197531.2,