Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555850151
rs1555850151
KCNQ2
1.000 20 63406659 frameshift variant -/GCCCA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2003 2014
dbSNP: rs1555850151
rs1555850151
KCNQ2
1.000 20 63406659 frameshift variant -/GCCCA delins
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 1.000 1 2014 2014