Source: BEFREE

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: rs2237892
rs2237892
KCNQ1
0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 1.000 24 2008 2019
dbSNP: rs2237895
rs2237895
KCNQ1
0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 0.889 17 2008 2019
dbSNP: rs2237897
rs2237897
KCNQ1
0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.880 1.000 8 2008 2019
dbSNP: rs12720459
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.850 1.000 5 2005 2017
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 1.000 4 2010 2019
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 1 1996 2015
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 1 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 1 1996 2017
dbSNP: rs163177
rs163177
KCNQ1
1.000 0.080 11 2817183 intron variant T/C snv 0.45
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 1 2010 2017
dbSNP: rs163182
rs163182
KCNQ1
0.882 0.160 11 2822986 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 1 2011 2016
dbSNP: rs163184
rs163184
KCNQ1
1.000 0.080 11 2825839 intron variant T/G snv 0.40
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 1 2010 2018
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 1 1996 2017
dbSNP: rs199472804
rs199472804
KCNQ1
0.925 0.120 11 2776997 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 1 1996 2019
dbSNP: rs199473457
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.810 1.000 1 1996 2015
dbSNP: rs2237896
rs2237896
KCNQ1
1.000 0.080 11 2837210 intron variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.810 1.000 1 2011 2019
dbSNP: rs12720459
rs12720459
KCNQ1
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.770 1.000 7 1996 2019
dbSNP: rs2283228
rs2283228
KCNQ1
1.000 0.080 11 2828300 intron variant A/C snv 0.10
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.760 1.000 6 2009 2017
dbSNP: rs120074190
rs120074190
KCNQ1
0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 3 1999 2017
dbSNP: rs151344631
rs151344631
KCNQ1
0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 3 2008 2018
dbSNP: rs17215500
rs17215500
KCNQ1
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		0.730 1.000 3 1999 2015
dbSNP: rs120074189
rs120074189
KCNQ1
0.851 0.120 11 2778003 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 0.917 2 1998 2019
dbSNP: rs17215500
rs17215500
KCNQ1
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 2 1999 2015
dbSNP: rs1064795333
rs1064795333
KCNQ1
1.000 0.120 11 2528005 frameshift variant CT/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2014 2014
dbSNP: rs120074179
rs120074179
KCNQ1
0.925 0.120 11 2572089 missense variant G/A;C;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 1996 2012
dbSNP: rs120074184
rs120074184
KCNQ1
0.925 0.120 11 2583453 missense variant G/A;C;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2009 2009