Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519601
rs1057519601
MYO15A
CCAGGCCCGTGCAGCTC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519603
rs1057519603
MYO15A ; LOC105371566
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519604
rs1057519604
MYO15A ; LOC105371566
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519606
rs1057519606
MYO15A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519607
rs1057519607
MYO15A
GC 0.700 CausalMutation CLINVAR

dbSNP: rs144964568
rs144964568
GJB3 ; SMIM12 ; LOC105378642
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566538321
rs1566538321
GJB6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs772862268
rs772862268
GJB6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs774056663
rs774056663
PCDH15
AATAGTATT 0.700 GeneticVariation CLINVAR

dbSNP: rs878854415
rs878854415
MYO15A ; LOC105371566
G 0.700 CausalMutation CLINVAR

dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3, a dominant nonsyndromic hearing loss. 9529365

1998
dbSNP: rs35887622
rs35887622
GJB2
0.040 GeneticVariation BEFREE One of the more controversial allele variants, M34T, has been hypothesized to cause autosomal dominant nonsyndromic hearing loss. 11216656

2000
dbSNP: rs144446375
rs144446375
CEMIP
0.010 GeneticVariation BEFREE We identified an R187C mutation in one family, an R187H mutation in two unrelated families, and an H783Y mutation in one sporadic case of nonsyndromic hearing loss. 14577002

2003
dbSNP: rs996035812
rs996035812
CEMIP
0.010 GeneticVariation BEFREE We identified an R187C mutation in one family, an R187H mutation in two unrelated families, and an H783Y mutation in one sporadic case of nonsyndromic hearing loss. 14577002

2003
dbSNP: rs111033260
rs111033260
PCDH15
0.010 GeneticVariation BEFREE Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. 15028842

2004
dbSNP: rs28931593
rs28931593
GJB2
0.020 GeneticVariation BEFREE Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 15996214

2005
dbSNP: rs80356593
rs80356593
OTOF
0.010 GeneticVariation BEFREE Cohorts of 708 Spanish, 83 Colombian, and 30 Argentinean unrelated subjects with autosomal recessive NSHI were screened for the common p.Gln829X mutation. 18381613

2008
dbSNP: rs111033293
rs111033293
GJB2
0.010 GeneticVariation BEFREE The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia. 19814620

2009
dbSNP: rs121908144
rs121908144
BSND
0.010 GeneticVariation BEFREE We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. 19646679

2009
dbSNP: rs776848994
rs776848994
GJB6
0.010 GeneticVariation BEFREE The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia. 19814620

2009
dbSNP: rs104894396
rs104894396
GJB2
0.020 GeneticVariation BEFREE Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania. 20096468

2010
dbSNP: rs121908073
rs121908073
TMC1
0.010 GeneticVariation BEFREE High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. 20373850

2010
dbSNP: rs750584965
rs750584965
TMIE
0.010 GeneticVariation BEFREE However, a missense variant (c.257G>A) and one promoter variant (g.1-219A>T) were found in two patients with nonsyndromic hearing loss. 20206386

2010
dbSNP: rs104894396
rs104894396
GJB2
0.020 GeneticVariation BEFREE This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil. 20563649

2011
dbSNP: rs1064797088
rs1064797088
GJB2
0.010 GeneticVariation BEFREE In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a novel mutation in GJB2 (p.Asp46Asn). 21484990

2011