rs886041339, 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, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.925 0.040 20 63424195 frameshift variant G/-;GG delins 0.700 1.000 1 2009 2009
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 20 63424195 frameshift variant G/-;GG delins 0.700 0
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.925 0.040 20 63424195 frameshift variant G/-;GG delins 0.700 0