rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
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 |
|
|
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Recessive 1b
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1566538321
|
1.000 |
0.120 |
13 |
20222994 |
frameshift variant |
G/-
|
delins
|
|
|
Nonsyndromic Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs772862268
|
1.000 |
0.120 |
13 |
20223159 |
stop gained |
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
Nonsyndromic Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894414
|
1.000 |
0.120 |
13 |
20223467 |
missense variant |
G/A
|
snv
|
2.4E-05
|
1.4E-05
|
Deafness, Autosomal Dominant 3B
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
1 |
1999 |
1999 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Hidrotic Ectodermal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.830 |
1.000 |
15 |
2000 |
2016 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Deafness, Autosomal Dominant 3B
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
2000 |
2016 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
2000 |
2016 |
rs28937872
|
0.851 |
0.200 |
13 |
20223218 |
missense variant |
G/A
|
snv
|
|
|
Hidrotic Ectodermal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.740 |
1.000 |
9 |
2000 |
2019 |
rs28937872
|
0.851 |
0.200 |
13 |
20223218 |
missense variant |
G/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
2000 |
2016 |
rs28937872
|
0.851 |
0.200 |
13 |
20223218 |
missense variant |
G/A
|
snv
|
|
|
Deafness, Autosomal Dominant 3B
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
2000 |
2016 |
rs104894416
|
0.882 |
0.160 |
13 |
20223371 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Hidrotic Ectodermal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.830 |
1.000 |
4 |
2000 |
2014 |
rs189971962
|
|
|
13 |
20223085 |
synonymous variant |
C/T
|
snv
|
1.8E-04
|
3.5E-05
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Senter syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs104894415
|
0.742 |
0.240 |
13 |
20223450 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Keratitis-Ichthyosis-Deafness Syndrome
|
Eye Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs104894416
|
0.882 |
0.160 |
13 |
20223371 |
missense variant |
A/T
|
snv
|
4.0E-06
|
|
Smith-Lemli-Opitz Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1382085021
|
1.000 |
0.240 |
13 |
20223092 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
Mutilating keratoderma
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs770612890
|
1.000 |
0.080 |
13 |
20223418 |
frameshift variant |
C/-
|
delins
|
|
3.1E-04
|
Hidrotic Ectodermal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2006 |
2014 |
rs780320724
|
0.925 |
0.120 |
13 |
20223362 |
missense variant |
G/A
|
snv
|
5.6E-05
|
|
Deafness, Autosomal Dominant 3B
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs776848994
|
1.000 |
0.120 |
13 |
20223480 |
start lost |
T/C
|
snv
|
1.6E-05
|
4.2E-05
|
Nonsyndromic Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs775911480
|
1.000 |
0.080 |
13 |
20223257 |
missense variant |
C/T
|
snv
|
2.4E-05
|
|
Keratoderma, Palmoplantar
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.030 |
1.000 |
3 |
2010 |
2014 |