Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840808
rs116840808
Entrez Id: 6165;84223
Gene Symbol: RPL35A;IQCG
RPL35A;IQCG
CUI: C2675859
Disease:
Diamond-Blackfan Anemia 5
0.800 GeneticVariation UNIPROT Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 18535205 2008
dbSNP: rs116840808
rs116840808
Entrez Id: 6165;84223
Gene Symbol: RPL35A;IQCG
RPL35A;IQCG
CUI: C2675859
Disease:
Diamond-Blackfan Anemia 5
A 0.800 CausalMutation CLINVAR