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
CUI: C0014544
Disease: Epilepsy
339 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.060 1.000 6 2013 2018
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.030 1.000 3 2010 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2014 2014
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2017 2017
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
33 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
Hippocampal sclerosis
CUI: C1504404
Disease: Hippocampal sclerosis
14 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1.000 1 2012 2012
SPHEROCYTOSIS, TYPE 1 (disorder)
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
16 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.010 1 2012 2012