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: rs779760381
rs779760381
SLC2A5
1.000 0.120 1 9039877 missense variant G/A snv 1.2E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
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: rs749697698
rs749697698
SCN5A
0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 3 2000 2009
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: rs199473124
rs199473124
SCN5A
0.851 0.120 3 38603902 missense variant A/T snv 8.0E-06 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
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: rs72549410
rs72549410
SCN5A
0.851 0.120 3 38606058 missense variant C/T snv
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: 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: rs773204795
rs773204795
TECRL
0.882 0.120 4 64309896 missense variant C/T snv 2.4E-05 2.1E-05
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: 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: 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
dbSNP: rs199473524
rs199473524
KCNH2
0.925 0.120 7 150951555 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 13 1999 2015
dbSNP: rs199472845
rs199472845
KCNH2
0.925 0.120 7 150974851 missense variant C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 9 1999 2015
dbSNP: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 1998 2015
dbSNP: rs199473419
rs199473419
KCNH2
0.925 0.120 7 150974809 missense variant T/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 9 1999 2014
dbSNP: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 8 1995 2013