rs757222354, LYST

N. diseases: 1
Disease: Chediak-Higashi Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.010 GeneticVariation BEFREE Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. 21488161 2011