KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Disease: Bulbous nose ×
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: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2015 2015
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 0