Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118192200
rs118192200
KCNQ2
4 0.882 20 63444729 missense variant C/T snv 0.700 1.000 2 2007 2015