TMC1, transmembrane channel like 1, 117531

N. diseases: 16; N. variants: 23
Disease: Nonsyndromic Deafness ×
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: rs121908073
rs121908073 		0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010