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 0.700 0
dbSNP: rs121912514
rs121912514
KCNH2
2 0.925 0.120 7 150947729 missense variant G/A;T snv 6.0E-05; 6.0E-06 0.700 0
dbSNP: rs12720459
rs12720459
KCNQ1
7 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1554424772
rs1554424772
KCNH2
1 1.000 7 150948855 splice donor variant C/T snv 0.700 0
dbSNP: rs397508116
rs397508116
KCNQ1
1 1.000 11 2570712 frameshift variant T/- del 0.700 0
dbSNP: rs794728455
rs794728455
KCNH2
3 0.882 0.120 7 150947796 frameshift variant C/-;CC delins 2.4E-05 0.700 0