Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555817157
rs1555817157
ABHD12
A 0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850

2018
dbSNP: rs1057518895
rs1057518895
AIFM1 ; RAB33A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs104894334
rs104894334
AQP2 ; LOC101927318
0.010 GeneticVariation BEFREE In addition, a recurrent missense mutation (A147T) within the aquaporin-2 gene was identified in a female patient with autosomal recessive NDI associated with sensorineural deafness. 10770218

2000
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1318358361
rs1318358361
ARID1B
0.010 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449

2006
dbSNP: rs200455852
rs200455852
ASAH1
G 0.700 CausalMutation CLINVAR

dbSNP: rs61736451
rs61736451
ATP2B2
0.010 GeneticVariation BEFREE V586M was detected in two unrelated persons with increased sensorineural hearing loss, in the other caused by a mutation in MYO6 (which encodes myosin VI) in one and by noise exposure, suggesting that this variant may modify the severity of sensorineural hearing loss caused by a variety of factors. 15829536

2005
dbSNP: rs10258719
rs10258719
ATP6V0A4
0.010 GeneticVariation BEFREE Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report. 24564331

2014
dbSNP: rs74315289
rs74315289
BSND
0.010 GeneticVariation BEFREE Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. 12574213

2003
dbSNP: rs549556142
rs549556142
CDC14A
T 0.700 CausalMutation CLINVAR

dbSNP: rs876661408
rs876661408
CDC14A
T 0.700 CausalMutation CLINVAR

dbSNP: rs1250745641
rs1250745641
CDH23
0.010 GeneticVariation BEFREE V586M was detected in two unrelated persons with increased sensorineural hearing loss, in the other caused by a mutation in MYO6 (which encodes myosin VI) in one and by noise exposure, suggesting that this variant may modify the severity of sensorineural hearing loss caused by a variety of factors. 15829536

2005
dbSNP: rs1057517694
rs1057517694
CEP78
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517695
rs1057517695
CEP78
C 0.700 CausalMutation CLINVAR

dbSNP: rs1558939623
rs1558939623
CHN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs144948296
rs144948296
CKMT1B ; STRC
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908930
rs121908930
COCH ; LOC100506071
0.010 GeneticVariation BEFREE We studied the clinical characteristics of an Australian family with an autosomal dominant sensorineural hearing impairment (DFNA9) caused by an I109N mutation in COCH. 21774451

2011
dbSNP: rs28938175
rs28938175
COCH ; LOC100506071
0.010 GeneticVariation BEFREE The Pro51Ser (P51S) COCH mutation is characterized by a late-onset bilateral sensorineural hearing loss (SNHL) and progressive vestibular deterioration. 30806805

2019
dbSNP: rs745434198
rs745434198
COL11A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569492161
rs1569492161
COL4A5
C 0.700 CausalMutation CLINVAR

dbSNP: rs281874674
rs281874674
COL4A5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs762356974
rs762356974
DIAPH1
0.010 GeneticVariation BEFREE We discovered a novel heterozygous missense mutation in exon 8 of WFS1 predicting a p.R685P amino acid substitution that is likely to underlie the LFSNHL phenotype in the American family. 18518985

2008
dbSNP: rs775146972
rs775146972
DIAPH1
0.010 GeneticVariation BEFREE We discovered a novel heterozygous missense mutation in exon 8 of WFS1 predicting a p.R685P amino acid substitution that is likely to underlie the LFSNHL phenotype in the American family. 18518985

2008
dbSNP: rs876657776
rs876657776
DIAPH1
0.010 GeneticVariation BEFREE We describe 2 unrelated pedigrees with MTP and sensorineural hearing loss that segregate with a DIAPH1 R1213* variant predicting partial truncation of the DIAPH1 diaphanous autoregulatory domain. 26912466

2016
dbSNP: rs758723288
rs758723288
ECHS1
A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016