Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338652
rs80338652
LYST
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
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Neurologic involvement in patients with atypical Chediak-Higashi disease. 28193763

2017
dbSNP: rs80338652
rs80338652
LYST
A 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
dbSNP: rs80338652
rs80338652
LYST
A 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
dbSNP: rs80338652
rs80338652
LYST
A 0.710 GeneticVariation CLINVAR Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. 10648412

2000
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. 10648412

2000
dbSNP: rs80338652
rs80338652
LYST
A 0.710 CausalMutation CLINVAR Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 8896560

1996
dbSNP: rs80338652
rs80338652
LYST
A 0.710 GeneticVariation CLINVAR Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. 8896560

1996