rs118192226, 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 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 1.000 6 1984 2015
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 1.000 5 2001 2013
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.925 0.040 20 63415086 stop gained G/A;T snv 4.2E-06 0.700 0