rs121908721, ADA;PKIG

N. diseases: 3
Disease: Severe Combined Immunodeficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.710 GeneticVariation BEFREE In addition, our computational analysis showed that the H15D, G140E, G216R, and S291L mutations identified as being associated with severe combined immunodeficiency affect protein structure. 31781678 2019
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
0.710 GeneticVariation CLINVAR