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: rs28928905
rs28928905
KCNH2
5 0.851 0.120 7 150952514 missense variant C/G;T snv 0.730 1.000 5 2001 2013
dbSNP: rs121912510
rs121912510
KCNH2
2 0.925 0.120 7 150948995 missense variant G/A snv 4.0E-06 0.700 1.000 4 1999 2013
dbSNP: rs199472926
rs199472926
KCNH2
1 1.000 0.120 7 150951689 stop gained C/A;G;T snv 0.700 1.000 4 2001 2014
dbSNP: rs199472983
rs199472983
KCNH2
2 0.925 0.120 7 150950988 missense variant A/G snv 0.700 1.000 4 2009 2015
dbSNP: rs199473428
rs199473428
KCNH2
4 0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06 0.710 1.000 4 2000 2019
dbSNP: rs748706373
rs748706373
KCNH2
1 1.000 0.120 7 150947611 frameshift variant AG/- del 0.700 1.000 4 2000 2016
dbSNP: rs770047651
rs770047651
KCNH2
1 1.000 0.120 7 150957291 splice region variant C/T snv 0.700 1.000 4 2000 2009
dbSNP: rs794728504
rs794728504
KCNH2
1 1.000 0.120 7 150947463 frameshift variant C/- delins 0.700 1.000 4 2003 2015
dbSNP: rs121912506
rs121912506
KCNH2
2 0.925 0.120 7 150948984 missense variant C/G;T snv 0.700 1.000 3 1998 2013
dbSNP: rs1563161538
rs1563161538
KCNH2
1 1.000 0.120 7 150952843 frameshift variant A/- del 0.700 1.000 3 2009 2010
dbSNP: rs199472830
rs199472830
KCNH2
2 0.925 0.120 7 150974931 missense variant G/T snv 0.030 1.000 3 1999 2015
dbSNP: rs199472884
rs199472884
KCNH2
2 0.925 0.120 7 150958059 missense variant C/A;G snv 0.700 1.000 3 2005 2009
dbSNP: rs199473430
rs199473430
KCNH2
2 0.925 0.120 7 150951638 missense variant C/A;G snv 0.700 1.000 3 2000 2014
dbSNP: rs761863251
rs761863251
KCNH2
2 0.925 0.120 7 150959591 frameshift variant G/-;GG delins 0.700 1.000 3 2000 2017
dbSNP: rs794728455
rs794728455
KCNH2
3 0.882 0.120 7 150947796 frameshift variant C/-;CC delins 2.4E-05 0.700 1.000 3 2000 2011
dbSNP: rs1057520598
rs1057520598
KCNH2
1 1.000 0.120 7 150959738 splice acceptor variant T/C snv 0.700 1.000 2 2000 2009
dbSNP: rs1399804251
rs1399804251
KCNH2
1 1.000 0.120 7 150948443 inframe insertion -/GTGTCC delins 0.700 1.000 2 2000 2009
dbSNP: rs1554424070
rs1554424070
KCNH2
1 1.000 0.120 7 150947378 frameshift variant CGCCGACCCGGGC/- delins 0.700 1.000 2 2006 2009
dbSNP: rs199472862
rs199472862
KCNH2
1 1.000 0.120 7 150959673 missense variant A/C;G snv 0.020 1.000 2 2004 2005
dbSNP: rs199472958
rs199472958
KCNH2
2 0.925 0.120 7 150951505 missense variant C/G;T snv 2.0E-05 0.700 1.000 2 2017 2018
dbSNP: rs199473005
rs199473005
KCNH2
2 0.925 0.120 7 150948939 missense variant C/A;T snv 0.700 1.000 2 2009 2016
dbSNP: rs28928904
rs28928904
KCNH2
2 0.925 0.120 7 150951615 missense variant A/C;G;T snv 4.0E-06 0.720 1.000 2 1996 2005
dbSNP: rs730880116
rs730880116
KCNH2
2 0.925 0.120 7 150958290 stop gained C/A snv 0.700 1.000 2 2005 2006
dbSNP: rs794728380
rs794728380
KCNH2
1 1.000 0.120 7 150951442 splice region variant A/G snv 0.700 1.000 2 2004 2012
dbSNP: rs794728399
rs794728399
KCNH2
1 1.000 0.120 7 150947791 stop gained C/A;G;T snv 6.8E-05; 7.6E-06 0.700 1.000 2 2009 2012