RPL3, ribosomal protein L3, 6122

N. diseases: 26; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2014842
rs2014842
Entrez Id: 6122
Gene Symbol: RPL3
RPL3
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs2076125
rs2076125
Entrez Id: 6122;116937;116938
Gene Symbol: RPL3;SNORD83A;SNORD83B
RPL3;SNORD83A;SNORD83B
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs746239064
rs746239064
Entrez Id: 6122;116936
Gene Symbol: RPL3;SNORD139
RPL3;SNORD139
CUI: C0010691
Disease:
Cystinuria 		0.010 GeneticVariation BEFREE Finally, SLC7A10 polymorphisms were identified in cystinuria probands and the SLC7A10 sequence variant E112D showed full transport activity. 15458438 2004