TCF7L2, transcription factor 7 like 2, 6934

N. diseases: 257; N. variants: 70
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: rs3814570
rs3814570
0.925 0.040 10 112948751 upstream gene variant C/T snv 0.23
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3814570
rs3814570
0.925 0.040 10 112948751 upstream gene variant C/T snv 0.23
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs880082
rs880082
10 113129502 5 prime UTR variant T/A snv 0.16
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs565119818
rs565119818
1.000 0.040 10 113151854 synonymous variant C/T snv 1.6E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs575072438
rs575072438
1.000 0.040 10 113152371 synonymous variant C/T snv 2.8E-05 2.1E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1157868044
rs1157868044
1.000 0.080 10 112951246 missense variant G/A snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1290267513
rs1290267513
10 113146078 missense variant G/A snv 4.0E-06 7.1E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1427214163
rs1427214163
1.000 0.080 10 113151879 missense variant C/T snv 7.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1427214163
rs1427214163
1.000 0.080 10 113151879 missense variant C/T snv 7.0E-06
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs148523217
rs148523217
1.000 0.080 10 113146030 missense variant C/A snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs557826746
rs557826746
1.000 0.080 10 112950901 missense variant G/C snv 4.0E-06
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS
Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs766727892
rs766727892
0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs766727892
rs766727892
0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs766727892
rs766727892
0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs768298443
rs768298443
1.000 0.040 10 112950932 missense variant C/A snv 4.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs768298443
rs768298443
1.000 0.040 10 112950932 missense variant C/A snv 4.1E-06
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs77961654
rs77961654
1.000 0.080 10 113165610 missense variant C/A snv 5.3E-02 2.9E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs780571021
rs780571021
1.000 0.040 10 113146069 missense variant G/C;T snv 4.0E-06; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs780571021
rs780571021
1.000 0.040 10 113146069 missense variant G/C;T snv 4.0E-06; 8.0E-06
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 0.953 190 2006 2020
dbSNP: rs12255372
rs12255372
0.667 0.480 10 113049143 intron variant G/A;T snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 0.908 65 2006 2020
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 37 2006 2020
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.100 1.000 35 2006 2020
dbSNP: rs7901695
rs7901695
0.851 0.160 10 112994329 intron variant T/C snv 0.34
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 1.000 23 2006 2020
dbSNP: rs7903146
rs7903146
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.100 0.944 18 2007 2019