DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Low frequency 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: rs1554944271
rs1554944271 		0.851 0.240 11 686925 missense variant C/G snv
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017