TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Deafness, Autosomal Recessive 7 ×
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: 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