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: rs759504704
rs759504704
NARS2
0.010 GeneticVariation BEFREE A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem. 25807530

2015
dbSNP: rs565224393
rs565224393
NARS2
0.010 GeneticVariation BEFREE A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem. 25807530

2015
dbSNP: rs1283780488
rs1283780488
NARS2
0.010 GeneticVariation BEFREE A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem. 25807530

2015
dbSNP: rs794729665
rs794729665
DCDC2
G 0.700 CausalMutation CLINVAR A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation. 25601850

2015
dbSNP: rs765136820
rs765136820
ILDR1
0.010 GeneticVariation BEFREE A Novel p.G141R Mutation in <i>ILDR1</i> Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. 29849566

2018
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: rs387906893
rs387906893
DIABLO
0.010 GeneticVariation BEFREE By linkage analysis and candidate screening, we identified a heterozygous SMAC/DIABLO mutation, c.377C>T (p.Ser126Leu, refers to p.Ser71Leu in the mature protein) in a six-generation Chinese kindred characterized by dominant progressive nonsyndromic hearing loss, designated as DFNA64. 21722859

2011
dbSNP: rs397514599
rs397514599
PNPT1
0.010 GeneticVariation BEFREE By positional cloning, we identified a homozygous PNPT1 missense mutation (c.1424A>G predicting the protein substitution p.Glu475Gly) of a highly conserved PNPase residue within the second RNase-PH domain in a family affected by autosomal-recessive nonsyndromic hearing impairment. 23084290

2012
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: rs201294938
rs201294938
COCH ; LOC100506071
0.010 GeneticVariation BEFREE Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. 28099493

2017
dbSNP: rs587777040
rs587777040
ELMOD3
0.010 GeneticVariation BEFREE Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. 24039609

2013
dbSNP: rs1321703512
rs1321703512
SLCO6A1
0.010 GeneticVariation BEFREE Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. 24039609

2013
dbSNP: rs574202455
rs574202455
CCNH ; RASA1
0.010 GeneticVariation BEFREE Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. 24039609

2013
dbSNP: rs1465957812
rs1465957812
KCNMA1
0.010 GeneticVariation BEFREE Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. 24039609

2013
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