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rs387906891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906891(A;A)
Make rs387906891(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position102212862
GeneRRM2B
is asnp
is mentioned by
dbSNPrs387906891
ebirs387906891
HLIrs387906891
Exacrs387906891
Varsomers387906891
Maprs387906891
PheGenIrs387906891
hapmaprs387906891
1000 genomesrs387906891
hgdprs387906891
ensemblrs387906891
gopubmedrs387906891
geneviewrs387906891
scholarrs387906891
googlers387906891
pharmgkbrs387906891
gwascentralrs387906891
openSNPrs387906891
23andMers387906891
23andMe allrs387906891
SNP Nexus

SNPshotrs387906891
SNPdbers387906891
MSV3drs387906891
GWAS Ctlgrs387906891
Max Magnitude0
ClinVar
Risk rs387906891(A;A)
Alt rs387906891(A;A)
Reference Rs387906891(G;G)
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.103225090C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023388.3, RCV000119008.2,