rs794727134, KCNQ2

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.
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.080 20 63414092 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.925 0.080 20 63414092 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Familial benign neonatal epilepsy
CUI: C0220669
Disease: Familial benign neonatal epilepsy
13 0.925 0.080 20 63414092 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019