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: rs1563145763
rs1563145763
AKAP9
1.000 0.120 7 92099838 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs796052199
rs796052199
AKAP9
1.000 0.120 7 92002212 missense variant T/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs796052200
rs796052200
AKAP9
1.000 0.120 7 92045186 missense variant T/A snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs755287627
rs755287627
ANK2
1.000 0.120 4 113353494 missense variant A/G snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs796052197
rs796052197
ANK2
1.000 0.120 4 113354767 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs796052198
rs796052198
ANK2
1.000 0.120 4 113356741 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
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: 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: rs750835733
rs750835733
CACNA1C
1.000 0.120 12 2593252 missense variant C/G;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2013 2013
dbSNP: rs786205748
rs786205748
CACNA1C
1.000 0.120 12 2566465 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2015 2019
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: 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: 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: rs778914298
rs778914298
CAV3 ; SSUH2
1.000 0.120 3 8733883 frameshift variant GAAGAGCA/- delins 3.5E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs796052171
rs796052171
CAV3 ; SSUH2
1.000 0.120 3 8733913 missense variant A/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs121912997
rs121912997
DSP
0.925 0.160 6 7579989 stop gained C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
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: rs1555843953
rs1555843953
KCNE1
1.000 0.120 21 34449430 frameshift variant TGGA/- del
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1997 2014
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: 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: rs199472944
rs199472944
KCNH2
0.882 0.120 7 150951552 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 30 1997 2015
dbSNP: rs199472957
rs199472957
KCNH2
0.882 0.120 7 150951507 missense variant T/A;C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 14 1998 2016
dbSNP: rs199473522
rs199473522
KCNH2
0.882 0.120 7 150951583 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 14 1999 2014
dbSNP: rs199473487
rs199473487
KCNH2
0.925 0.120 7 150974920 missense variant T/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 13 1999 2017