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rs2290707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2290707(G;T)
Make rs2290707(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position102239027
GeneRRM2B, UBR5-AS1
is asnp
is mentioned by
dbSNPrs2290707
dbSNP (old)rs2290707
ClinGenrs2290707
ebirs2290707
HLIrs2290707
Exacrs2290707
Varsomers2290707
Maprs2290707
PheGenIrs2290707
Biobankrs2290707
1000 genomesrs2290707
hgdprs2290707
ensemblrs2290707
gopubmedrs2290707
geneviewrs2290707
scholarrs2290707
googlers2290707
pharmgkbrs2290707
gwascentralrs2290707
openSNPrs2290707
23andMers2290707
23andMe allrs2290707
SNP Nexus

SNPshotrs2290707
SNPdbers2290707
MSV3drs2290707
GWAS Ctlgrs2290707
Max Magnitude0

[PMID 24861915] Investigation of the association of hRRM1 and p53R2 gene polymorphisms in head and neck squamous cell carcinomas

ClinVar
Risk rs2290707(T;T)
Alt rs2290707(T;T)
Reference Rs2290707(G;G)
Significance Non-pathogenic
Disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Mitochondrial DNA depletion syndrome
Variation info
Gene RRM2B LOC101927221 UBR5-AS1
CLNDBN Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Mitochondrial DNA depletion syndrome
Reversed 1
HGVS NC_000008.10:g.103251255C>A
CLNSRC
CLNACC RCV000283694.1, RCV000348081.1,