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: rs1800172
rs1800172
KCNQ1 ; KCNQ1-AS1
4 0.925 0.120 11 2847899 missense variant G/A;T snv 6.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs199472936
rs199472936
KCNH2
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
dbSNP: rs199473024
rs199473024
KCNH2
2 7 150947362 missense variant T/C snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs72544141
rs72544141
ANK2
4 0.925 0.120 4 113348277 missense variant A/G snv 5.5E-04 8.3E-04 0.010 1.000 1 2003 2003
dbSNP: rs869025337
rs869025337
BVES
5 0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016