Source: UNIPROT

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: rs120074184
rs120074184
KCNQ1
0.925 0.120 11 2583453 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 25 1996 2017
dbSNP: rs120074193
rs120074193
KCNQ1
0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 25 1996 2017
dbSNP: rs199472719
rs199472719
KCNQ1
0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 25 1996 2017
dbSNP: rs199472759
rs199472759
KCNQ1
0.925 0.120 11 2583529 missense variant T/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 25 1996 2017
dbSNP: rs74462309
rs74462309
KCNQ1
0.925 0.120 11 2583457 missense variant A/C;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 25 1996 2017
dbSNP: rs104894252
rs104894252
KCNQ1
1.000 0.120 11 2570715 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs120074177
rs120074177
KCNQ1
0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs120074182
rs120074182
KCNQ1
1.000 0.120 11 2583448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs120074183
rs120074183
KCNQ1
1.000 0.120 11 2585213 missense variant G/A snv 1.4E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs120074187
rs120074187
KCNQ1
0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs120074191
rs120074191
KCNQ1
0.925 0.120 11 2445448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 24 1996 2017
dbSNP: rs193922365
rs193922365
KCNQ1
0.925 0.120 11 2572970 missense variant C/A;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs199472737
rs199472737
KCNQ1
1.000 0.120 11 2572942 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs199472755
rs199472755
KCNQ1
0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 24 1996 2017
dbSNP: rs199473398
rs199473398
KCNQ1
1.000 0.120 11 2570706 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 24 1996 2017
dbSNP: rs199473442
rs199473442
KCNQ1
1.000 0.120 11 2445103 missense variant C/G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs199473443
rs199473443
KCNQ1
1.000 0.120 11 2445117 missense variant C/T snv 1.7E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.800 1.000 24 1996 2017
dbSNP: rs267607197
rs267607197
KCNQ1
1.000 0.120 11 2587690 missense variant G/A snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 24 1996 2017
dbSNP: rs120074178
rs120074178
KCNQ1
0.925 0.120 11 2570719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 21 1996 2015
dbSNP: rs150172393
rs150172393
KCNQ1
0.925 0.120 11 2570733 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 21 1996 2015
dbSNP: rs199472706
rs199472706
KCNQ1
0.925 0.120 11 2571391 missense variant C/T snv 4.0E-06 1.0E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 21 1996 2015
dbSNP: rs199472710
rs199472710
KCNQ1
0.925 0.120 11 2572033 missense variant T/A snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.710 1.000 21 1996 2015
dbSNP: rs199472713
rs199472713
KCNQ1
0.925 0.120 11 2572056 missense variant C/A;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 21 1996 2015
dbSNP: rs199472726
rs199472726
KCNQ1
0.925 0.120 11 2572880 missense variant G/A;T snv 8.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 21 1996 2015
dbSNP: rs199472727
rs199472727
KCNQ1
1.000 0.120 11 2572883 missense variant T/C;G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 21 1996 2015