rs1554844486, KAT6B

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hypoplasia of the maxilla
CUI: C0240310
Disease: Hypoplasia of the maxilla
5 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Congenital hypoplasia of kidney
CUI: C0266295
Disease: Congenital hypoplasia of kidney
8 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Telecanthus
CUI: C0423113
Disease: Telecanthus
14 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.160 10 75024984 frameshift variant GGGT/- del 0.700 0