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: rs121912507
rs121912507
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.820 1.000 0 1995 2019
dbSNP: rs121912504
rs121912504
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.810 1.000 0 1995 2014
dbSNP: rs121912505
rs121912505
1.000 0.120 7 150952574 missense variant T/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.810 1.000 0 1995 2017
dbSNP: rs104894021
rs104894021
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1
0.800 1.000 0 2004 2005
dbSNP: rs121912506
rs121912506
0.925 0.120 7 150948984 missense variant C/G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs121912508
rs121912508
0.925 0.120 7 150951649 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs121912510
rs121912510
0.925 0.120 7 150948995 missense variant G/A snv 4.0E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs121912511
rs121912511
0.925 0.120 7 150974825 missense variant T/G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs121912512
rs121912512
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
dbSNP: rs121912513
rs121912513
1.000 0.120 7 150948866 missense variant T/A;C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs121912516
rs121912516
0.882 0.120 7 150951721 missense variant C/G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199472833
rs199472833
1.000 0.120 7 150974926 missense variant A/C;G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
dbSNP: rs199472884
rs199472884
0.925 0.120 7 150958059 missense variant C/A;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199472885
rs199472885
0.925 0.120 7 150957485 missense variant G/A snv 1.0E-04 8.4E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2009
dbSNP: rs199472893
rs199472893
1.000 0.120 7 150952744 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2
0.800 1.000 0 1995 2017
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