GCG, glucagon, 2641

N. diseases: 441; N. variants: 10
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: rs1037733674
rs1037733674 		0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.500 4 1996 2002
dbSNP: rs1037733674
rs1037733674 		0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 1998 1999
dbSNP: rs1037733674
rs1037733674 		0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1037733674
rs1037733674 		0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1037733674
rs1037733674 		0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1303328174
rs1303328174 		1.000 0.120 2 162144042 missense variant G/T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs150179526
rs150179526 		1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs150179526
rs150179526 		1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs183433761
rs183433761 		0.851 0.200 2 162152278 5 prime UTR variant T/C;G snv
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs183433761
rs183433761 		0.851 0.200 2 162152278 5 prime UTR variant T/C;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs183433761
rs183433761 		0.851 0.200 2 162152278 5 prime UTR variant T/C;G snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs183433761
rs183433761 		0.851 0.200 2 162152278 5 prime UTR variant T/C;G snv
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs183433761
rs183433761 		0.851 0.200 2 162152278 5 prime UTR variant T/C;G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs375960284
rs375960284 		1.000 0.120 2 162145570 missense variant G/A snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs5650
rs5650 		1.000 0.120 2 162145588 missense variant G/A snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs749317102
rs749317102 		1.000 0.120 2 162147470 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0021670
Disease: insulinoma
insulinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs766216371
rs766216371 		1.000 0.080 2 162144043 missense variant T/C snv 2.8E-05 1.4E-04
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs770254254
rs770254254 		0.925 0.080 2 162147505 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2012 2012
dbSNP: rs770254254
rs770254254 		0.925 0.080 2 162147505 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs980303898
rs980303898 		0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs980303898
rs980303898 		0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs980303898
rs980303898 		0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs980303898
rs980303898 		0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2018 2018