Disease: hearing impairment ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907015
rs387907015
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
CUI: C1384666
Disease:
hearing impairment 		0.010 GeneticVariation BEFREE Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. 21255762 2011