Gene: KCNH2 ×
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: rs1805123
rs1805123
KCNH2
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.020 1.000 2 2008 2010
dbSNP: rs767910122
rs767910122
KCNH2
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2008 2010
dbSNP: rs794728448
rs794728448
KCNH2
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.020 1.000 2 2008 2010
dbSNP: rs9333649
rs9333649
KCNH2
3 0.882 0.200 7 150951679 missense variant C/A;G;T snv 0.720 1.000 6 2000 2016
dbSNP: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.710 1.000 1 2018 2018
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.710 0.800 5 2003 2012
dbSNP: rs199472904
rs199472904
KCNH2
2 0.925 0.160 7 150952595 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs199472944
rs199472944
KCNH2
3 0.882 0.120 7 150951552 missense variant G/A snv 0.700 1.000 30 1997 2015
dbSNP: rs199472957
rs199472957
KCNH2
3 0.882 0.120 7 150951507 missense variant T/A;C;G snv 0.700 1.000 14 1998 2016
dbSNP: rs199473522
rs199473522
KCNH2
3 0.882 0.120 7 150951583 missense variant C/T snv 0.710 1.000 14 1999 2014
dbSNP: rs199473487
rs199473487
KCNH2
2 0.925 0.120 7 150974920 missense variant T/G snv 0.700 1.000 13 1999 2017
dbSNP: rs199473524
rs199473524
KCNH2
2 0.925 0.120 7 150951555 missense variant G/A snv 0.700 1.000 13 1999 2015
dbSNP: rs199472845
rs199472845
KCNH2
2 0.925 0.120 7 150974851 missense variant C/A;T snv 0.710 1.000 10 1999 2015
dbSNP: rs121912507
rs121912507
KCNH2
4 0.882 0.120 7 150951511 missense variant C/G;T snv 0.710 1.000 9 1995 2013
dbSNP: rs199472916
rs199472916
KCNH2
2 0.925 0.120 7 150951793 missense variant G/A;T snv 0.710 1.000 9 1998 2019
dbSNP: rs199472936
rs199472936
KCNH2
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.700 1.000 9 1998 2015
dbSNP: rs199473419
rs199473419
KCNH2
2 0.925 0.120 7 150974809 missense variant T/C snv 0.700 1.000 9 1999 2014
dbSNP: rs199472990
rs199472990
KCNH2
3 0.882 0.120 7 150950312 missense variant G/A snv 7.0E-06 0.700 1.000 8 2000 2018
dbSNP: rs199473538
rs199473538
KCNH2
3 0.882 0.120 7 150948981 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 8 2000 2013
dbSNP: rs199472918
rs199472918
KCNH2
3 0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05 0.720 1.000 6 2000 2014
dbSNP: rs199472941
rs199472941
KCNH2
2 0.925 0.120 7 150951568 missense variant C/A;G;T snv 0.700 1.000 6 2000 2016
dbSNP: rs199472968
rs199472968
KCNH2
3 0.925 0.120 7 150951484 missense variant C/T snv 0.710 1.000 6 2002 2014
dbSNP: rs199472961
rs199472961
KCNH2
2 0.925 0.120 7 150951495 missense variant T/A;C snv 0.700 1.000 5 1998 2014
dbSNP: rs199472986
rs199472986
KCNH2
2 0.925 0.120 7 150950404 missense variant G/A snv 0.700 1.000 5 2005 2016
dbSNP: rs199473421
rs199473421
KCNH2
2 0.925 0.120 7 150974803 missense variant G/A;C;T snv 0.700 1.000 5 2000 2016