DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 ×
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: rs587777406
rs587777406 		1.000 11 686979 missense variant A/C snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 2 2010 2014
dbSNP: rs587777408
rs587777408 		1.000 11 686992 missense variant G/A snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 2 2010 2014
dbSNP: rs587777409
rs587777409 		1.000 11 686900 missense variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 2 2010 2014
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 2 2017 2017
dbSNP: rs587777407
rs587777407 		1.000 11 686871 missense variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 2 2010 2014
dbSNP: rs1057519565
rs1057519565 		0.851 0.200 11 687941 missense variant C/T snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 1 2017 2017
dbSNP: rs1554943158
rs1554943158 		0.882 0.040 11 681045 inframe deletion CTT/- delins
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 1 2017 2017
dbSNP: rs1554944271
rs1554944271 		0.851 0.240 11 686925 missense variant C/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 1 2017 2017
dbSNP: rs886040972
rs886040972 		1.000 11 680959 splice region variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 1 2001 2001