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: 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: 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: rs730880116
rs730880116
KCNH2
2 0.925 0.120 7 150958290 stop gained C/A snv 0.700 1.000 2 2005 2006
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
dbSNP: rs1057517742
rs1057517742
KCNH2
1 1.000 0.120 7 150958430 stop gained G/C;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1137617
rs1137617
KCNH2
1 1.000 0.120 7 150951110 stop gained A/C;G;T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs189014161
rs189014161
KCNH2
3 0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.710 1.000 1 2012 2012
dbSNP: rs1057520558
rs1057520558
KCNH2
1 1.000 0.120 7 150947453 stop gained G/C snv 0.700 0
dbSNP: rs1064794793
rs1064794793
KCNH2
1 1.000 0.120 7 150950983 stop gained G/A snv 0.700 0
dbSNP: rs1554425486
rs1554425486
KCNH2
1 1.000 0.120 7 150951004 stop gained G/A snv 0.700 0
dbSNP: rs1554425527
rs1554425527
KCNH2
1 1.000 0.120 7 150951065 stop gained -/T delins 0.700 0
dbSNP: rs1554428173
rs1554428173
KCNH2
1 1.000 0.120 7 150959583 stop gained C/T snv 0.700 0
dbSNP: rs199473517
rs199473517
KCNH2
1 1.000 0.120 7 150951704 stop gained C/A;G;T snv 0.700 0
dbSNP: rs761585108
rs761585108
KCNH2
1 1.000 0.120 7 150947640 stop gained G/A;C;T snv 1.6E-05; 8.2E-06 0.700 0
dbSNP: rs794728401
rs794728401
KCNH2
1 1.000 0.120 7 150947478 stop gained C/G;T snv 0.700 0
dbSNP: rs794728403
rs794728403
KCNH2
1 1.000 0.120 7 150947440 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs878853771
rs878853771
KCNH2
1 1.000 0.120 7 150952503 stop gained G/A;T snv 4.0E-06 0.700 0
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