TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
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: rs121908072
rs121908072 		1.000 0.120 9 72816161 missense variant G/A;C snv
CUI: C1847626
Disease: Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 36 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.810 1.000 4 2002 2014
dbSNP: rs121908074
rs121908074 		1.000 0.120 9 72821038 missense variant A/G snv 2.1E-05
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.800 1.000 1 2002 2002
dbSNP: rs370898981
rs370898981 		1.000 0.120 9 72816213 splice region variant A/G snv 6.1E-04 5.5E-04
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2011 2013
dbSNP: rs1000668
rs1000668 		9 72790943 intron variant T/A;G snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs7022441
rs7022441 		9 72521873 5 prime UTR variant G/A snv 0.53
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs121908073
rs121908073 		0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908073
rs121908073 		0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908076
rs121908076 		1.000 0.120 9 72792329 missense variant T/C snv
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs138527651
rs138527651 		1.000 0.120 9 72821017 missense variant T/C snv 2.4E-05 2.1E-05
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564554148
rs1564554148 		1.000 0.120 9 72788337 splice acceptor variant A/C snv
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564554255
rs1564554255 		9 72788399 stop gained G/A snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564555185
rs1564555185 		1.000 0.120 9 72789306 frameshift variant -/A delins
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564555185
rs1564555185 		1.000 0.120 9 72789306 frameshift variant -/A delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564555240
rs1564555240 		9 72789319 splice donor variant T/C snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564556995
rs1564556995 		1.000 0.120 9 72791920 missense variant G/A snv
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564583413
rs1564583413 		1.000 0.120 9 72830640 stop gained G/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1564583413
rs1564583413 		1.000 0.120 9 72830640 stop gained G/T snv
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs727503483
rs727503483 		1.000 0.120 9 72792318 missense variant C/A;T snv
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs757327146
rs757327146 		1.000 0.120 9 72789236 stop gained C/A;G;T snv 2.4E-05
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs757327146
rs757327146 		1.000 0.120 9 72789236 stop gained C/A;G;T snv 2.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs761261855
rs761261855 		9 72816175 missense variant C/G;T snv 1.2E-05 7.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs773851192
rs773851192 		9 72789302 stop gained G/A;C snv 4.0E-06
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775428246
rs775428246 		0.925 0.120 9 72694715 splice donor variant G/A;T snv 1.7E-05; 4.2E-06
CUI: C1847626
Disease: Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 36 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775428246
rs775428246 		0.925 0.120 9 72694715 splice donor variant G/A;T snv 1.7E-05; 4.2E-06
CUI: C1832978
Disease: Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775428246
rs775428246 		0.925 0.120 9 72694715 splice donor variant G/A;T snv 1.7E-05; 4.2E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0