rs148388884
|
1.000 |
0.200 |
1 |
34784871 |
missense variant |
G/A;C;T
|
snv
|
9.1E-04;
4.4E-05;
8.0E-06
|
|
Congenital deafness
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs74315318
|
0.925 |
0.200 |
1 |
34785309 |
missense variant |
G/A
|
snv
|
6.4E-04
|
1.8E-04
|
Deafness, Autosomal Dominant 2B
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
1 |
1998 |
1998 |
rs74315320
|
0.925 |
0.120 |
1 |
34785183 |
missense variant |
A/G
|
snv
|
|
|
Deafness, Autosomal Dominant 2B
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs74315320
|
0.925 |
0.120 |
1 |
34785183 |
missense variant |
A/G
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs770247378
|
1.000 |
0.120 |
1 |
34785183 |
inframe deletion |
ATT/-
|
del
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1557659237
|
1.000 |
0.120 |
1 |
34784770 |
stop gained |
G/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121908851
|
1.000 |
0.120 |
1 |
34785259 |
missense variant |
A/G;T
|
snv
|
8.0E-06;
4.0E-06
|
|
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs74315321
|
0.882 |
0.080 |
1 |
34784887 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
Erythrokeratoderma
|
Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs28937583
|
0.925 |
0.080 |
1 |
34784863 |
missense variant |
T/C
|
snv
|
|
|
Erythrokeratodermia variabilis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs74315315
|
0.925 |
0.080 |
1 |
34784796 |
missense variant |
G/A;C
|
snv
|
3.2E-05
|
|
Erythrokeratodermia variabilis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs74315316
|
0.925 |
0.080 |
1 |
34784797 |
missense variant |
G/A
|
snv
|
|
|
Erythrokeratodermia variabilis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs74315318
|
0.925 |
0.200 |
1 |
34785309 |
missense variant |
G/A
|
snv
|
6.4E-04
|
1.8E-04
|
Erythrokeratodermia variabilis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs74315321
|
0.882 |
0.080 |
1 |
34784887 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
Erythrokeratodermia variabilis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs74315315
|
0.925 |
0.080 |
1 |
34784796 |
missense variant |
G/A;C
|
snv
|
3.2E-05
|
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
3 |
1998 |
2000 |
rs74315316
|
0.925 |
0.080 |
1 |
34784797 |
missense variant |
G/A
|
snv
|
|
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
3 |
1998 |
2000 |
rs74315317
|
1.000 |
0.080 |
1 |
34785018 |
missense variant |
T/A;C
|
snv
|
4.0E-06
|
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
3 |
1998 |
2000 |
rs74315321
|
0.882 |
0.080 |
1 |
34784887 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
3 |
1998 |
2000 |
rs28937583
|
0.925 |
0.080 |
1 |
34784863 |
missense variant |
T/C
|
snv
|
|
|
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs74315319
|
1.000 |
0.120 |
1 |
34785300 |
stop gained |
C/T
|
snv
|
8.8E-05
|
3.5E-05
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.020 |
1.000 |
2 |
2005 |
2017 |
rs28937583
|
0.925 |
0.080 |
1 |
34784863 |
missense variant |
T/C
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs74315318
|
0.925 |
0.200 |
1 |
34785309 |
missense variant |
G/A
|
snv
|
6.4E-04
|
1.8E-04
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1557659237
|
1.000 |
0.120 |
1 |
34784770 |
stop gained |
G/A
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs74315319
|
1.000 |
0.120 |
1 |
34785300 |
stop gained |
C/T
|
snv
|
8.8E-05
|
3.5E-05
|
Hearing Loss, High-Frequency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs1064794946
|
0.925 |
0.120 |
1 |
34784872 |
missense variant |
T/A
|
snv
|
|
|
Hidrotic Ectodermal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs749431664
|
1.000 |
0.120 |
1 |
34785282 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Nonsyndromic Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |