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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
CNS hypomyelination
CUI: C4025616
Disease: CNS hypomyelination
6 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Complex partial seizure with impairment of consciousness
10 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Epileptic drop attack
CUI: C0270846
Disease: Epileptic drop attack
6 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Gelastic Epilepsy
CUI: C0270820
Disease: Gelastic Epilepsy
2 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Intermittent fever
CUI: C0277799
Disease: Intermittent fever
2 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Lower limb hypertonia
CUI: C1845245
Disease: Lower limb hypertonia
5 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Reduced brain choline level by MRS
CUI: C4476567
Disease: Reduced brain choline level by MRS
3 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
9 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0