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rs1130609

From SNPedia

Orientationplus
Stabilizedplus
Make rs1130609(G;G)
Make rs1130609(G;T)
Make rs1130609(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position10122793
GeneRRM2
is asnp
is mentioned by
dbSNPrs1130609
ebirs1130609
HLIrs1130609
Exacrs1130609
Varsomers1130609
Maprs1130609
PheGenIrs1130609
hapmaprs1130609
1000 genomesrs1130609
hgdprs1130609
ensemblrs1130609
gopubmedrs1130609
geneviewrs1130609
scholarrs1130609
googlers1130609
pharmgkbrs1130609
gwascentralrs1130609
openSNPrs1130609
23andMers1130609
23andMe allrs1130609
SNP Nexus

SNPshotrs1130609
SNPdbers1130609
MSV3drs1130609
GWAS Ctlgrs1130609
GMAF0.3462
Max Magnitude
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene RRM2
allele G
frequency 0.258
sift
HuRef 1103658020441
Disease Association Ribonucleotide reductase is thought to mediate the pathogenesis of the immunodeficiency of adenosine deaminase or purine nucleoside phosphorylase. The deoxynucleotides that accumulate in the lymphoid cells of these patients are thought to feed-back inhibit ribonucleotide reductase, preventing DNA replication and cell proliferation.



GET Evidence
RRM2-S59A
aa_change Ser59Ala
aa_change_short S59A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary