rs74315391, KCNQ2

N. diseases: 6
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, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.827 0.120 20 63444730 missense variant G/A snv 0.800 1.000 11 1998 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.827 0.120 20 63444730 missense variant G/A snv 0.700 1.000 4 2001 2014
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
CUI: C3149075
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
2 0.827 0.120 20 63444730 missense variant G/A snv 0.700 0
Convulsions in the newborn
CUI: C0159020
Disease: Convulsions in the newborn
4 0.827 0.120 20 63444730 missense variant G/A snv 0.010 1.000 1 2007 2007
Familial benign neonatal epilepsy
CUI: C0220669
Disease: Familial benign neonatal epilepsy
13 0.827 0.120 20 63444730 missense variant G/A snv 0.010 1.000 1 2001 2001
Myokymia
CUI: C0684219
Disease: Myokymia
2 0.827 0.120 20 63444730 missense variant G/A snv 0.010 1.000 1 2001 2001