DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Absent speech ×
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: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1057519565
rs1057519565 		0.851 0.200 11 687941 missense variant C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017