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: rs1057517742
rs1057517742
KCNH2
1.000 0.120 7 150958430 stop gained G/C;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 1 2005 2005
dbSNP: rs1057520558
rs1057520558
KCNH2
1.000 0.120 7 150947453 stop gained G/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1057520598
rs1057520598
KCNH2
1.000 0.120 7 150959738 splice acceptor variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 2 2000 2009
dbSNP: rs1060500621
rs1060500621
KCNQ1
1.000 0.120 11 2572846 missense variant GA/TT mnv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 10 1999 2016
dbSNP: rs1060500623
rs1060500623
KCNQ1
1.000 0.120 11 2445295 frameshift variant C/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1060500626
rs1060500626
KCNQ1
1.000 0.120 11 2572069 frameshift variant AGGCTCCTGG/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1060500628
rs1060500628
KCNQ1
1.000 0.120 11 2572062 stop gained G/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1060500629
rs1060500629
KCNQ1
1.000 0.120 11 2587616 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1060500661
rs1060500661
KCNH2
1.000 0.120 7 150951698 frameshift variant G/- 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: rs1060500670
rs1060500670
KCNH2
1.000 0.120 7 150959642 frameshift variant C/- del
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1060502318
rs1060502318
CAV3 ; SSUH2
1.000 0.120 3 8733882 frameshift variant GG/- del 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1064793434
rs1064793434
KCNH2
1.000 0.120 7 150948978 frameshift variant C/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1064794793
rs1064794793
KCNH2
1.000 0.120 7 150950983 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs1064795333
rs1064795333
KCNQ1
1.000 0.120 11 2528005 frameshift variant CT/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2014 2014
dbSNP: rs1085307620
rs1085307620
KCNH2
1.000 0.120 7 150958306 frameshift variant TGCCA/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
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: rs116840778
rs116840778
CAV3 ; SSUH2
0.882 0.200 3 8733956 missense variant G/A;C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 14 2000 2011
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
1.000 0.120 3 8745580 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 3 2004 2017
dbSNP: rs120074177
rs120074177
KCNQ1
0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 5 1997 2014
dbSNP: rs120074178
rs120074178
KCNQ1
0.925 0.120 11 2570719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 8 1996 2014
dbSNP: rs120074179
rs120074179
KCNQ1
0.925 0.120 11 2572089 missense variant G/A;C;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 11 1996 2012
dbSNP: rs120074184
rs120074184
KCNQ1
0.925 0.120 11 2583453 missense variant G/A;C;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2009 2009
dbSNP: rs120074185
rs120074185
KCNQ1
0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2005 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