TECTA, tectorin alpha, 7007

N. diseases: 24; N. variants: 28
Disease: Deafness, Autosomal Dominant 12 ×
Source: ALL
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: rs140236996
rs140236996 		1.000 0.120 11 121168064 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 6 1999 2012
dbSNP: rs121909058
rs121909058 		1.000 0.120 11 121168076 missense variant A/G snv
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 1999 2003
dbSNP: rs121909059
rs121909059 		1.000 0.120 11 121137648 missense variant T/A snv 4.0E-06
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 1999 2003
dbSNP: rs121909060
rs121909060 		0.925 0.120 11 121160301 missense variant G/C snv
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 1999 2003
dbSNP: rs121909061
rs121909061 		0.925 0.120 11 121166703 missense variant T/C;G snv
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 1999 2003
dbSNP: rs121909063
rs121909063 		0.925 0.120 11 121168135 missense variant C/A;T snv
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 2 1999 2003
dbSNP: rs121909062
rs121909062 		1.000 0.120 11 121187894 missense variant G/A snv 4.0E-06
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs138768918
rs138768918 		1.000 0.120 11 121145754 missense variant C/T snv 3.1E-04 2.9E-04
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs1428598791
rs1428598791 		1.000 0.120 11 121168765 missense variant C/T snv 1.4E-05
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs146175803
rs146175803 		1.000 0.120 11 121129927 missense variant A/G snv 4.8E-04 5.9E-04
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs147890616
rs147890616 		1.000 0.120 11 121137885 missense variant G/C snv 1.5E-04 3.1E-04
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs267607107
rs267607107 		1.000 0.120 11 121166665 missense variant G/A;C snv 4.0E-05; 4.0E-06
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs281865415
rs281865415 		0.925 0.120 11 121166652 missense variant C/T snv
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs754213928
rs754213928 		1.000 0.120 11 121165372 missense variant C/A;G;T snv 9.6E-06; 8.7E-05; 1.4E-05
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs761524812
rs761524812 		1.000 0.120 11 121137772 missense variant C/T snv 1.2E-05
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs772606235
rs772606235 		0.882 0.120 11 121137586 missense variant G/A;T snv 5.2E-05
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs779123206
rs779123206 		1.000 0.120 11 121118599 missense variant A/T snv 2.0E-05 1.4E-05
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2003
dbSNP: rs111759871
rs111759871 		1.000 0.120 11 121129714 missense variant C/A;T snv 4.0E-06; 2.1E-04
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs753896285
rs753896285 		1.000 0.120 11 121130157 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853224
rs878853224 		1.000 0.120 11 121187849 missense variant A/G snv
CUI: C1832187
Disease: Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 12 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0