rs1570624, EFHC1

N. diseases: 3
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.
Absence Epilepsy
CUI: C0014553
Disease: Absence Epilepsy
17 0.882 0.040 6 52454252 missense variant G/A snv 1.0E-02 9.6E-03 0.010 1.000 1 2015 2015
Childhood Absence Epilepsy
CUI: C4281785
Disease: Childhood Absence Epilepsy
13 0.882 0.040 6 52454252 missense variant G/A snv 1.0E-02 9.6E-03 0.010 1.000 1 2015 2015
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
46 0.882 0.040 6 52454252 missense variant G/A snv 1.0E-02 9.6E-03 0.010 1.000 1 2015 2015