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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
13 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.800 1.000 2 2016 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 1.000 4 2016 2017
Abnormal conjugate eye movement
CUI: C1845274
Disease: Abnormal conjugate eye movement
5 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Abnormal muscle tone
CUI: C0852413
Disease: Abnormal muscle tone
7 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Abnormal subcutaneous fat tissue distribution
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
2 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Abnormality of the cerebral ventricles
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
5 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Chorea
CUI: C0008489
Disease: Chorea
20 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Congenital torticollis
CUI: C0079352
Disease: Congenital torticollis
6 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Delayed CNS myelination
CUI: C4021758
Disease: Delayed CNS myelination
4 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0