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rs387906892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906892(C;T)
Make rs387906892(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position102232256
GeneRRM2B
is asnp
is mentioned by
dbSNPrs387906892
ebirs387906892
HLIrs387906892
Exacrs387906892
Varsomers387906892
Maprs387906892
PheGenIrs387906892
hapmaprs387906892
1000 genomesrs387906892
hgdprs387906892
ensemblrs387906892
gopubmedrs387906892
geneviewrs387906892
scholarrs387906892
googlers387906892
pharmgkbrs387906892
gwascentralrs387906892
openSNPrs387906892
23andMers387906892
23andMe allrs387906892
SNP Nexus

SNPshotrs387906892
SNPdbers387906892
MSV3drs387906892
GWAS Ctlgrs387906892
Max Magnitude0
ClinVar
Risk rs387906892(T;T)
Alt rs387906892(T;T)
Reference rs387906892(C;C)
Significance Pathogenic
Disease Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Variation info
Gene RRM2B
CLNDBN Progressive external ophthalmoplegia RRM2B-related mitochondrial disease
Reversed 1
HGVS NC_000008.10:g.103244484G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023389.3, RCV000118993.2,