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: rs199472938
rs199472938
1.000 0.120 7 150951579 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199472942
rs199472942
0.925 0.120 7 150951562 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199472953
rs199472953
1.000 0.120 7 150951517 missense variant C/T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
dbSNP: rs199472957
rs199472957
0.882 0.120 7 150951507 missense variant T/A;C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
dbSNP: rs199472958
rs199472958
0.925 0.120 7 150951505 missense variant C/G;T snv 2.0E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
dbSNP: rs199472961
rs199472961
0.925 0.120 7 150951495 missense variant T/A;C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199472979
rs199472979
1.000 0.120 7 150951087 missense variant G/A snv 7.0E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199473004
rs199473004
0.925 0.120 7 150948938 missense variant T/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
dbSNP: rs28928904
rs28928904
0.925 0.120 7 150951615 missense variant A/C;G;T snv 4.0E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 0
dbSNP: rs28928905
rs28928905
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 0
dbSNP: rs9333649
rs9333649
0.882 0.200 7 150951679 missense variant C/A;G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 2011 2017
dbSNP: rs28928905
rs28928905
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.730 1.000 4 2001 2013
dbSNP: rs199472918
rs199472918
0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.720 1.000 5 2000 2014
dbSNP: rs9333649
rs9333649
0.882 0.200 7 150951679 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.720 1.000 4 2000 2016
dbSNP: rs28928904
rs28928904
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: rs199473522
rs199473522
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: rs199472845
rs199472845
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: rs121912507
rs121912507
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
dbSNP: rs199472916
rs199472916
0.925 0.120 7 150951793 missense variant G/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.710 1.000 8 1998 2019
dbSNP: rs199472968
rs199472968
0.925 0.120 7 150951484 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.710 1.000 6 2002 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: rs199473428
rs199473428
0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.710 1.000 3 2000 2019
dbSNP: rs121912504
rs121912504
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
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
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