rs41348347, THBD

N. diseases: 3
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
0.010 GeneticVariation BEFREE A causative mutation THBD p.D486Y was also identified in an aHUS patient. 25135378 2014