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.
Exaggerated startle response
CUI: C1740801
Disease: Exaggerated startle response
4 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Induced vaginal delivery
CUI: C4072908
Disease: Induced vaginal delivery
10 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
9 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Intolerant of heat
CUI: C0231274
Disease: Intolerant of heat
7 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Inversion of nipple (disorder)
CUI: C0269269
Disease: Inversion of nipple (disorder)
7 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Late tooth eruption
CUI: C0239174
Disease: Late tooth eruption
4 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Leg Length Inequality
CUI: C0023221
Disease: Leg Length Inequality
6 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Oropharyngeal Dysphagia
CUI: C0267071
Disease: Oropharyngeal Dysphagia
8 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Parkinsonism with favorable response to dopaminergic medication
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
2 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0