KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 ×
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: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1554679726
rs1554679726 		1.000 8 41933531 frameshift variant TA/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1554680188
rs1554680188 		1.000 8 41934624 frameshift variant C/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1554680245
rs1554680245 		1.000 8 41934777 frameshift variant T/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1564005155
rs1564005155 		1.000 8 41934182 frameshift variant A/- del
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1564038389
rs1564038389 		1.000 8 41980845 splice donor variant C/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1564038539
rs1564038539 		1.000 8 41980897 stop gained G/A snv
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs786200959
rs786200959 		1.000 8 41937491 frameshift variant GA/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs786200960
rs786200960 		1.000 8 41934835 stop gained G/A snv 1.2E-05
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs786200961
rs786200961 		1.000 8 41937538 stop gained G/A snv
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs886042000
rs886042000 		1.000 8 41934715 stop gained G/A snv
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0