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: rs28928904
rs28928904
KCNH2
0.925 0.120 7 150951615 missense variant A/C;G;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 1.000 0 1996 2005
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: 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: 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
dbSNP: rs121912512
rs121912512
KCNH2
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2003 2003
dbSNP: rs189014161
rs189014161
KCNH2
0.882 0.120 7 150950336 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2012 2012
dbSNP: rs193922365
rs193922365
KCNQ1
0.925 0.120 11 2572970 missense variant C/A;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2015 2015
dbSNP: rs199472730
rs199472730
KCNQ1
0.882 0.120 11 2572895 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2011 2011
dbSNP: rs199472765
rs199472765
KCNQ1
0.925 0.120 11 2585225 stop gained C/A;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2011 2011
dbSNP: rs199472924
rs199472924
KCNH2
0.925 0.120 7 150951702 missense variant A/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2000 2000
dbSNP: rs199472942
rs199472942
KCNH2
0.925 0.120 7 150951562 missense variant A/C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2005 2005
dbSNP: rs199473479
rs199473479
KCNQ1
0.925 0.120 11 2768888 missense variant T/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2007 2007
dbSNP: rs199473603
rs199473603
SCN5A
0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2007 2007
dbSNP: rs36210422
rs36210422
KCNH2
0.882 0.120 7 150958449 missense variant G/A;C snv 3.2E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2006 2006
dbSNP: rs794728391
rs794728391
KCNH2
0.925 0.120 7 150950167 splice donor variant C/A;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 0 2008 2008
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: 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: 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