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: rs1131691762
rs1131691762
KCNE1
1.000 0.120 21 34449622 frameshift variant -/A delins 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 4 1997 2014
dbSNP: rs1554425284
rs1554425284
KCNH2
1.000 0.120 7 150950347 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554426219
rs1554426219
KCNH2
1.000 0.120 7 150952646 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554431441
rs1554431441
KCNH2
1.000 0.120 7 150977847 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs397508105
rs397508105
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847865 frameshift variant -/A delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554424083
rs1554424083
KCNH2
1.000 0.120 7 150947383 frameshift variant -/ACCCG delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs863224478
rs863224478
KCNH2
1.000 0.120 7 150958473 splice acceptor variant -/AGCTTCAGGCGGAAGGTCTTGGCGCGGCC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs794728458
rs794728458
KCNH2
1.000 0.120 7 150947785 frameshift variant -/C delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs397508117
rs397508117
KCNQ1
0.925 0.120 11 2570712 frameshift variant -/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 1997 2011
dbSNP: rs1464992494
rs1464992494
KCNQ1 ; KCNQ1-AS1
1.000 0.120 11 2847874 frameshift variant -/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs786204101
rs786204101
KCNH2
1.000 0.120 7 150947670 frameshift variant -/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554424079
rs1554424079
KCNH2
1.000 0.120 7 150947381 frameshift variant -/GC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554958132
rs1554958132
KCNQ1
1.000 0.120 11 2445478 frameshift variant -/GC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs794728449
rs794728449
KCNH2
1.000 0.120 7 150947842 frameshift variant -/GCCCC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs794728425
rs794728425
KCNH2
1.000 0.120 7 150958220 frameshift variant -/GGCGATGGGAGCTGGCCGGG delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1399804251
rs1399804251
KCNH2
1.000 0.120 7 150948443 inframe insertion -/GTGTCC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 2000 2009
dbSNP: rs1554424671
rs1554424671
KCNH2
1.000 0.120 7 150948478 frameshift variant -/T delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1554425527
rs1554425527
KCNH2
1.000 0.120 7 150951065 stop gained -/T delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1060500662
rs1060500662
KCNH2
1.000 0.120 7 150950200 frameshift variant -/TC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs794728470
rs794728470
KCNH2
1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1563161538
rs1563161538
KCNH2
1.000 0.120 7 150952843 frameshift variant A/- del
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 3 2009 2010
dbSNP: rs794728508
rs794728508
KCNH2
1.000 0.120 7 150974864 frameshift variant A/- del
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs397508083
rs397508083
KCNQ1
1.000 0.120 11 2588719 frameshift variant A/-;AA delins 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 5 2004 2012
dbSNP: rs1564820729
rs1564820729
KCNQ1
1.000 0.120 11 2572011 splice acceptor variant A/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 1997 2009
dbSNP: rs397508133
rs397508133
KCNQ1
1.000 0.120 11 2583433 splice acceptor variant A/C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 3 1997 2016