DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: Central hypotonia ×
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: rs1554943158
rs1554943158 		0.882 0.040 11 681045 inframe deletion CTT/- delins
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 1.000 1 2017 2017