Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555598800
rs1555598800
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. 22252923

2012