rs786200952, KAT6A

N. diseases: 13
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.
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
12 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 0