Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338651
rs80338651
LYST
0.710 GeneticVariation BEFREE Novel mutations were identified within the region of the coding domain common to both isoforms in three CHS patients: C-->T transitions that generated stop codons (R50X and Q1029X) were found in two patients, and a novel frameshift mutation (deletion of nucleotides 3073 and 3074 of the coding domain) was found in a third. 9215680

1997
dbSNP: rs80338651
rs80338651
LYST
A 0.710 CausalMutation CLINVAR