SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Hearing Loss ×
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: rs111033205
rs111033205 		0.882 0.240 7 107661726 stop gained G/C;T snv 9.3E-05; 6.2E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033220
rs111033220 		0.925 0.160 7 107690203 missense variant C/G;T snv 4.0E-06; 1.8E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033305
rs111033305 		0.925 0.160 7 107690200 missense variant G/A;C snv 1.0E-04; 8.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033312
rs111033312 		0.925 0.160 7 107698112 splice donor variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033313
rs111033313 		0.925 0.160 7 107683453 splice acceptor variant A/G snv 3.6E-04 1.7E-04
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033348
rs111033348 		0.925 0.160 7 107674326 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908362
rs121908362 		0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908363
rs121908363 		0.925 0.160 7 107710126 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1241745103
rs1241745103 		0.925 0.160 7 107701139 frameshift variant G/- del 7.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs192366176
rs192366176 		0.925 0.160 7 107700180 splice region variant G/A snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs200455203
rs200455203 		0.925 0.160 7 107701998 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs201562855
rs201562855 		0.925 0.160 7 107690148 missense variant A/T snv 4.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786204581
rs786204581 		0.925 0.160 7 107663366 stop gained C/T snv
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs912147281
rs912147281 		0.925 0.160 7 107683356 splice donor variant T/C snv 8.0E-06 1.4E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0