rs1554844486, KAT6B

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
0.700 GeneticVariation CLINVAR
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
0.700 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
0.700 GeneticVariation CLINVAR
Poor speech
CUI: C1848207
Disease: Poor speech
0.700 GeneticVariation CLINVAR
Congenital hypoplasia of kidney
CUI: C0266295
Disease: Congenital hypoplasia of kidney
0.700 GeneticVariation CLINVAR
Hypoplasia of the maxilla
CUI: C0240310
Disease: Hypoplasia of the maxilla
0.700 GeneticVariation CLINVAR
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
0.700 GeneticVariation CLINVAR
Telecanthus
CUI: C0423113
Disease: Telecanthus
0.700 GeneticVariation CLINVAR