KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Young Simpson syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease:
Young Simpson syndrome 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs199470482
rs199470482
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		AGCTGCAGCAT 0.700 CausalMutation CLINVAR Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 22077973 2011
dbSNP: rs1554843829
rs1554843829
Entrez Id: 23522;109623471
Gene Symbol: KAT6B;SNORD172
KAT6B;SNORD172
CUI: C1863557
Disease:
Young Simpson syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554845880
rs1554845880
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		AAG 0.700 GeneticVariation CLINVAR
dbSNP: rs1554845902
rs1554845902
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199470468
rs199470468
Entrez Id: 23522;109623471
Gene Symbol: KAT6B;SNORD172
KAT6B;SNORD172
CUI: C1863557
Disease:
Young Simpson syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs199470476
rs199470476
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs199470479
rs199470479
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs199470483
rs199470483
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		GCCAA 0.700 CausalMutation CLINVAR
dbSNP: rs199470484
rs199470484
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907364
rs387907364
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		CACA 0.700 CausalMutation CLINVAR
dbSNP: rs751215527
rs751215527
Entrez Id: 23522;109623471
Gene Symbol: KAT6B;SNORD172
KAT6B;SNORD172
CUI: C1863557
Disease:
Young Simpson syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs863224883
rs863224883
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		C 0.700 GeneticVariation CLINVAR