RPS29, ribosomal protein S29, 6235

N. diseases: 32; N. variants: 2
Disease: Anemia, Diamond-Blackfan ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777568
rs587777568
Entrez Id: 6029;6235;107987206
Gene Symbol: RN7SL1;RPS29;LOC107987206
RN7SL1;RPS29;LOC107987206
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		0.010 GeneticVariation BEFREE The DBA proband with the p.I31F RPS29 mutation had a pre-ribosomal RNA (rRNA) processing defect compared with the healthy control. 24829207 2014
dbSNP: rs587777569
rs587777569
Entrez Id: 6029;6235;107987206
Gene Symbol: RN7SL1;RPS29;LOC107987206
RN7SL1;RPS29;LOC107987206
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		0.010 GeneticVariation BEFREE A second DBA family was found to have a different nonsynonymous mutation (p.I50T) in RPS29. 24829207 2014