rs80338652, LYST

N. diseases: 2
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
0.710 GeneticVariation BEFREE WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS. 28145517 2017
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 CausalMutation CLINVAR Neurologic involvement in patients with atypical Chediak-Higashi disease. 28193763 2017
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 CausalMutation CLINVAR WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS. 28145517 2017
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 CausalMutation CLINVAR Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. 28458669 2017
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 GeneticVariation CLINVAR Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. 10648412 2000
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 CausalMutation CLINVAR Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. 10648412 2000
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 CausalMutation CLINVAR Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 8896560 1996
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
0.710 GeneticVariation CLINVAR Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 8896560 1996