Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2237892
rs2237892
0.790 0.320 11 2818521 intron variant C/T snv 9.2E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 1.000 32 2008 2019
dbSNP: rs2237895
rs2237895
0.790 0.240 11 2835964 intron variant A/C;T snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 0.889 18 2008 2019
dbSNP: rs2237897
rs2237897
0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.880 1.000 11 2008 2019
dbSNP: rs12720459
rs12720459
0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.850 1.000 10 2005 2017
dbSNP: rs231362
rs231362
1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 1.000 10 2010 2019
dbSNP: rs199473457
rs199473457
0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 27 1996 2015
dbSNP: rs120074193
rs120074193
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 26 1996 2017
dbSNP: rs120074191
rs120074191
0.925 0.120 11 2445448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 25 1996 2017
dbSNP: rs199472755
rs199472755
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 25 1996 2017
dbSNP: rs199472804
rs199472804
0.925 0.120 11 2776997 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 23 1996 2019
dbSNP: rs120074178
rs120074178
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 22 1996 2015
dbSNP: rs163184
rs163184
1.000 0.080 11 2825839 intron variant T/G snv 0.40
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 8 2010 2018
dbSNP: rs2237896
rs2237896
1.000 0.080 11 2837210 intron variant G/A;T snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 6 2011 2019
dbSNP: rs163182
rs163182
0.882 0.160 11 2822986 intron variant G/A;C snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 3 2011 2016
dbSNP: rs163177
rs163177
1.000 0.080 11 2817183 intron variant T/C snv 0.45
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 2 2010 2017
dbSNP: rs120074184
rs120074184
0.925 0.120 11 2583453 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs199472719
rs199472719
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs199472759
rs199472759
0.925 0.120 11 2583529 missense variant T/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs74462309
rs74462309
0.925 0.120 11 2583457 missense variant A/C;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs104894252
rs104894252
1.000 0.120 11 2570715 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074177
rs120074177
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074182
rs120074182
1.000 0.120 11 2583448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074183
rs120074183
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074187
rs120074187
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs193922365
rs193922365
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
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017