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.
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
CUI: C3280730
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
3 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.800 1.000 1 2012 2012
Epilepsy, Rolandic
CUI: C0376532
Disease: Epilepsy, Rolandic
81 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 1.000 1 2018 2018
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
13 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Confusion
CUI: C0009676
Disease: Confusion
5 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Irregular Menstruation
CUI: C0156404
Disease: Irregular Menstruation
3 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Palpitations
CUI: C0030252
Disease: Palpitations
7 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Periventricular gray matter heterotopia
CUI: C1849173
Disease: Periventricular gray matter heterotopia
3 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
15 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
33 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.010 1.000 1 2012 2012
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.010 1.000 1 2012 2012