rs1057519467, HEXA

N. diseases: 5
Disease: Cherry red spot of the macula ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944 2012