rs1057516049, KAT6A

N. diseases: 7
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.
Accessory nipple
CUI: C0266011
Disease: Accessory nipple
3 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
Hypoplastic fingernail
CUI: C1856786
Disease: Hypoplastic fingernail
2 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
12 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0