DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Large hand ×
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: rs1057519565
rs1057519565 		0.851 0.200 11 687941 missense variant C/T snv
CUI: C0426870
Disease: Large hand
Large hand 		0.700 1.000 1 2017 2017