SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 ×
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: rs267607042
rs267607042 		0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 1.000 4 2010 2017
dbSNP: rs1057519594
rs1057519594 		1.000 18 44951356 frameshift variant -/T ins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 1.000 1 2014 2014
dbSNP: rs606231269
rs606231269 		1.000 18 44951803 frameshift variant A/- delins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231270
rs606231270 		1.000 18 44952372 stop gained C/G snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231271
rs606231271 		1.000 18 44701771 frameshift variant C/- delins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231272
rs606231272 		0.925 0.240 18 44951213 stop gained C/T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231273
rs606231273 		0.925 0.240 18 44951216 stop gained C/T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs672601342
rs672601342 		1.000 18 44950936 stop gained G/A;T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0