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: 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
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: rs878853229
rs878853229 		1.000 0.120 9 72648657 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: rs878853230
rs878853230 		1.000 0.120 9 72694707 frameshift variant A/- del
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: 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