Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894396
rs104894396
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894398
rs104894398
0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894408
rs104894408
0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894413
rs104894413
0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033293
rs111033293
0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033294
rs111033294
0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033299
rs111033299
0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs371024165
rs371024165
0.763 0.400 13 20189488 missense variant G/A;T snv 3.2E-05; 8.0E-06
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs72474224
rs72474224
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727503066
rs727503066
0.776 0.280 13 20189203 missense variant G/A;C snv
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs76434661
rs76434661
0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs774518779
rs774518779
0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338940
rs80338940
0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338944
rs80338944
0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338945
rs80338945
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338948
rs80338948
0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs80338950
rs80338950
0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05
Progressive hearing loss stapes fixation
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0