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: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.080 1.000 8 2005 2019
dbSNP: rs104894584
rs104894584
KCNJ2
5 0.851 0.120 17 70175553 missense variant G/A snv 0.040 1.000 4 2012 2017
dbSNP: rs199472947
rs199472947
KCNH2
1 1.000 0.080 7 150951540 missense variant G/A;C snv 0.020 1.000 2 2011 2019
dbSNP: rs120074195
rs120074195
KCNQ1
3 0.925 0.120 11 2572984 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs199472687
rs199472687
KCNQ1
5 0.827 0.120 11 2527962 missense variant G/A snv 0.010 1.000 1 2017 2017