Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894401
rs104894401
GJB2
0.010 GeneticVariation BEFREE p.R143Q mutation in GJB2 can cause mild to profound bilateral sensorineural hearing impairment. 22991996

2013
dbSNP: rs138490803
rs138490803
COQ7
0.010 GeneticVariation BEFREE One mutation from the only previously identified patient (V141E), and one (L111P) from a 6-year-old girl who presents with spasticity and bilateral sensorineural hearing loss. 28409910

2017
dbSNP: rs1417146153
rs1417146153
SLC26A4
0.010 GeneticVariation BEFREE The mutational analysis showed that the proband (III-2) had EVAS with bilateral sensorineural hearing loss and carried a rare compound heterozygous mutation of SLC26A4 (IVS7-2A>G, c.2167C>G), which was inherited from the same mutant alleles of IVS7-2A>G heterozygous father and c.2167C>G heterozygous mother. 26035154

2015
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: rs431905517
rs431905517
SLC26A5
0.010 GeneticVariation BEFREE Methods The subjects were two sisters with bilateral sensorineural hearing loss who were compound heterozygotes for c.209G > A (p.W70X) and c.390A > C (p.R130S) mutations in the prestin gene. 26824437

2016
dbSNP: rs431905518
rs431905518
SLC26A5
0.010 GeneticVariation BEFREE Methods The subjects were two sisters with bilateral sensorineural hearing loss who were compound heterozygotes for c.209G > A (p.W70X) and c.390A > C (p.R130S) mutations in the prestin gene. 26824437

2016
dbSNP: rs80338950
rs80338950
GJB2
0.010 GeneticVariation BEFREE A de novo GJB2 p.R184Q mutation can cause severe-to-profound bilateral sensorineural hearing impairment. 21868108

2011
dbSNP: rs864321686
rs864321686
COQ7
0.010 GeneticVariation BEFREE One mutation from the only previously identified patient (V141E), and one (L111P) from a 6-year-old girl who presents with spasticity and bilateral sensorineural hearing loss. 28409910

2017
dbSNP: rs137853066
rs137853066
KCNJ10
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554358720
rs1554358720
SLC26A4
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555783467
rs1555783467
SLC52A3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556445736
rs1556445736
COL4A5
G 0.700 CausalMutation CLINVAR

dbSNP: rs1564405163
rs1564405163
GATA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs201257588
rs201257588
TBC1D24
G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397507478
rs397507478
BRAF
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122965
rs398122965
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
dbSNP: rs398122966
rs398122966
TBC1D24
T 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
dbSNP: rs398122967
rs398122967
TBC1D24
A 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014