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: rs120074196
rs120074196
KCNQ1
4 0.882 0.120 11 2572057 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1432061016
rs1432061016
DES
1 2 219421446 missense variant T/C snv 0.010 1.000 1 2008 2008