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: rs1057520558
rs1057520558
KCNH2
1 1.000 0.120 7 150947453 stop gained G/C snv 0.700 0
dbSNP: rs1060500628
rs1060500628
KCNQ1
1 1.000 0.120 11 2572062 stop gained G/T snv 0.700 0
dbSNP: rs1060500629
rs1060500629
KCNQ1
1 1.000 0.120 11 2587616 stop gained G/A snv 0.700 0
dbSNP: rs1064794793
rs1064794793
KCNH2
1 1.000 0.120 7 150950983 stop gained G/A snv 0.700 0
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T 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: rs1554893228
rs1554893228
KCNQ1
1 1.000 0.120 11 2572899 stop gained C/G snv 0.700 0
dbSNP: rs1554958043
rs1554958043
KCNQ1
1 1.000 0.120 11 2445192 stop gained A/T snv 0.700 0
dbSNP: rs1563145763
rs1563145763
AKAP9
1 1.000 0.120 7 92099838 stop gained G/A snv 0.700 0
dbSNP: rs1564825414
rs1564825414
KCNQ1
1 1.000 0.120 11 2585305 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: rs397508072
rs397508072
KCNQ1
2 0.925 0.120 11 2585245 stop gained C/T snv 0.700 0
dbSNP: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
2 0.925 0.120 11 2662080 stop gained C/T snv 0.700 0
dbSNP: rs397516042
rs397516042
MYBPC3
5 0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06 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: rs794728571
rs794728571
KCNQ1
1 1.000 0.120 11 2585260 stop gained C/T snv 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: rs199472815
rs199472815
KCNQ1
4 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 16 2000 2014
dbSNP: rs199473456
rs199473456
KCNQ1
3 0.882 0.120 11 2571394 missense variant C/T snv 1.2E-05 0.700 1.000 15 1999 2015
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
7 0.882 0.200 3 8733956 missense variant G/A;C snv 0.700 1.000 14 2000 2011