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.
Severe speech delay
CUI: C1968537
Disease: Severe speech delay
9 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
39 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 18 1990 2016