rs1057519467, HEXA

N. diseases: 5
Disease: Developmental regression ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012