Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12720458
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1805128
rs1805128
KCNE1
0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.750 1.000 6 2000 2018
dbSNP: rs199472709
rs199472709
KCNQ1
0.790 0.120 11 2572021 missense variant G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 7 2004 2015
dbSNP: rs120074193
rs120074193
KCNQ1
0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 13 1997 2015
dbSNP: rs199472795
rs199472795
KCNQ1
0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 12 2000 2015
dbSNP: rs74315445
rs74315445
KCNE1
0.807 0.120 21 34449409 missense variant C/T snv 6.8E-05 5.3E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 11 1997 2014
dbSNP: rs79891110
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 11 2004 2016
dbSNP: rs397508097
rs397508097
KCNQ1
0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 2001 2014
dbSNP: rs12720459
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.770 1.000 8 1996 2019
dbSNP: rs17215500
rs17215500
KCNQ1
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 1.000 7 1999 2015
dbSNP: rs199472687
rs199472687
KCNQ1
0.827 0.120 11 2527962 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 7 2005 2015
dbSNP: rs587782933
rs587782933
CACNA1C
0.827 0.200 12 2504526 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 2005 2016
dbSNP: rs151344631
rs151344631
KCNQ1
0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 5 2008 2018
dbSNP: rs397516042
rs397516042
MYBPC3
0.827 0.120 11 47332075 stop gained G/A snv 8.1E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs199472815
rs199472815
KCNQ1
0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 16 2000 2014
dbSNP: rs120074189
rs120074189
KCNQ1
0.851 0.120 11 2778003 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 0.917 11 1998 2019
dbSNP: rs199472696
rs199472696
KCNQ1
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 1997 2013
dbSNP: rs199472755
rs199472755
KCNQ1
0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 5 2005 2012
dbSNP: rs397508118
rs397508118
KCNQ1
0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 5 1999 2015
dbSNP: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 4 2001 2013
dbSNP: rs199473428
rs199473428
KCNH2
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 3 2000 2019
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
0.851 0.200 3 8745688 missense variant G/A;T snv 1.6E-04; 2.0E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 2003 2005
dbSNP: rs120074186
rs120074186
KCNQ1
0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs121434500
rs121434500
SNTA1
0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2018 2018