COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
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: rs121908928
rs121908928 		1.000 0.120 14 30878834 missense variant G/A;T snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.810 1.000 14 1998 2014
dbSNP: rs121908930
rs121908930 		0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.810 1.000 14 1998 2014
dbSNP: rs121908932
rs121908932 		0.925 0.120 14 30889763 missense variant G/A;T snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 14 1998 2014
dbSNP: rs121908927
rs121908927 		1.000 0.120 14 30877686 missense variant T/C;G snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 13 1998 2014
dbSNP: rs121908929
rs121908929 		1.000 0.120 14 30878920 missense variant T/C snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 13 1998 2014
dbSNP: rs121908934
rs121908934 		1.000 0.120 14 30889673 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 13 1998 2014
dbSNP: rs28938175
rs28938175 		0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs121908931
rs121908931 		1.000 0.120 14 30878926 missense variant G/A snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 13 1998 2014
dbSNP: rs12897108
rs12897108 		14 30893304 intron variant G/A;T snv
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs756790858
rs756790858 		0.925 14 30878863 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		0.700 1.000 1 2018 2018
dbSNP: rs756541797
rs756541797 		1.000 0.120 14 30885985 missense variant C/T snv 9.1E-05 6.3E-05
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs878853226
rs878853226 		1.000 0.120 14 30885994 missense variant C/T snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1045644
rs1045644 		14 30885890 missense variant C/G snv 0.56 0.51
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121908928
rs121908928 		1.000 0.120 14 30878834 missense variant G/A;T snv 8.0E-06
CUI: C0948285
Disease: Corneal striae
Corneal striae 		0.010 1.000 1 2007 2007
dbSNP: rs121908930
rs121908930 		0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs121908930
rs121908930 		0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121908932
rs121908932 		0.925 0.120 14 30889763 missense variant G/A;T snv
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201294938
rs201294938 		1.000 0.120 14 30884617 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28938175
rs28938175 		0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs28938175
rs28938175 		0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C0948285
Disease: Corneal striae
Corneal striae 		0.010 1.000 1 2007 2007
dbSNP: rs28938175
rs28938175 		0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28938175
rs28938175 		0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs28938175
rs28938175 		0.851 0.120 14 30877640 missense variant C/T snv 4.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs756790858
rs756790858 		0.925 14 30878863 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C3698167
Disease: Congenital prelingual deafness
Congenital prelingual deafness 		0.010 1.000 1 2018 2018