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: rs120074195
rs120074195
KCNQ1
3 0.925 0.120 11 2572984 missense variant G/A;C snv 0.800 1.000 1 2004 2004
dbSNP: rs1057519584
rs1057519584
KCNQ1
1 1.000 0.120 11 2572900 missense variant T/A snv 0.700 0
dbSNP: rs120074193
rs120074193
KCNQ1
7 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs17221854
rs17221854
KCNQ1
6 0.807 0.120 11 2777990 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs199472687
rs199472687
KCNQ1
5 0.827 0.120 11 2527962 missense variant G/A snv 0.700 0
dbSNP: rs199472709
rs199472709
KCNQ1
7 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 0
dbSNP: rs199472795
rs199472795
KCNQ1
6 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs397508097
rs397508097
KCNQ1
6 0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0