Gene: ILDR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1226171550
rs1226171550
ILDR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1559875009
rs1559875009
ILDR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs775062249
rs775062249
ILDR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1172585670
rs1172585670
ILDR1
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
dbSNP: rs387907015
rs387907015
ILDR1
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