KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Disease: Bulbous nose ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0240543
Disease:
Bulbous nose 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0240543
Disease:
Bulbous nose 		G 0.700 CausalMutation CLINVAR