LYST, lysosomal trafficking regulator, 1130

N. diseases: 114; N. variants: 18
Disease: Chediak-Higashi Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044542
rs797044542
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease:
Chediak-Higashi Syndrome 		0.010 GeneticVariation BEFREE Patient 1 is the first report of a severe early-onset CHS with a homozygous missense mutation (c.11362 G>A, p.G3725R) in the LYST/CHS1 gene. 24112114 2014