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: rs199473480
rs199473480
0.925 0.120 11 2776006 stop gained C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.710 1.000 12 2004 2016
dbSNP: rs79891110
rs79891110
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: rs397508097
rs397508097
0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 9 2001 2014
dbSNP: rs17215500
rs17215500
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.720 1.000 7 1999 2015
dbSNP: rs794728537
rs794728537
0.925 0.120 11 2778023 stop gained C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 6 1999 2014
dbSNP: rs773724817
rs773724817
0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.710 0.800 5 2003 2012
dbSNP: rs139042529
rs139042529
0.925 0.120 11 2570663 stop gained C/A;G;T snv 8.0E-06; 9.4E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 4 2005 2015
dbSNP: rs199472926
rs199472926
1.000 0.120 7 150951689 stop gained C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 4 2001 2014
dbSNP: rs397508075
rs397508075
1.000 0.120 11 2585254 stop gained C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 3 2009 2013
dbSNP: rs397508096
rs397508096
1.000 0.120 11 2445251 stop gained C/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 2 2005 2009
dbSNP: rs730880116
rs730880116
0.925 0.120 7 150958290 stop gained C/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 2 2005 2006
dbSNP: rs794728399
rs794728399
1.000 0.120 7 150947791 stop gained C/A;G;T snv 6.8E-05; 7.6E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 1.000 2 2009 2012
dbSNP: rs1057517742
rs1057517742
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: rs120074186
rs120074186
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
dbSNP: rs1057520558
rs1057520558
1.000 0.120 7 150947453 stop gained G/C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1060500628
rs1060500628
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
1.000 0.120 11 2587616 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1064794793
rs1064794793
1.000 0.120 7 150950983 stop gained G/A 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: rs1554425486
rs1554425486
1.000 0.120 7 150951004 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1554425527
rs1554425527
1.000 0.120 7 150951065 stop gained -/T delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1554428173
rs1554428173
1.000 0.120 7 150959583 stop gained C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1554893228
rs1554893228
1.000 0.120 11 2572899 stop gained C/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1554958043
rs1554958043
1.000 0.120 11 2445192 stop gained A/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs1563145763
rs1563145763
1.000 0.120 7 92099838 stop gained G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0