Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907972
rs121907972
HEXA
CUI: C1384666
Disease: hearing impairment
hearing impairment 		A 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012