HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
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: rs2464196
rs2464196 		0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2017
dbSNP: rs2464196
rs2464196 		0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2011 2016
dbSNP: rs735396
rs735396 		12 121001041 3 prime UTR variant T/C snv 0.39 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs1054762079
rs1054762079 		1.000 0.040 12 120979040 missense variant A/G snv
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057520291
rs1057520291 		1.000 0.120 12 120989017 stop gained C/A;T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057520291
rs1057520291 		1.000 0.120 12 120989017 stop gained C/A;T snv 4.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057520504
rs1057520504 		0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1057520504
rs1057520504 		0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1057520504
rs1057520504 		0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1057520779
rs1057520779 		1.000 0.080 12 120993679 missense variant G/A snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1060499866
rs1060499866 		0.925 0.080 12 120993532 missense variant C/T 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 2017 2017
dbSNP: rs1060499866
rs1060499866 		0.925 0.080 12 120993532 missense variant C/T snv
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11065381
rs11065381 		12 120982068 intron variant G/T snv 0.13
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1169159883
rs1169159883 		1.000 0.080 12 120994164 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1169284
rs1169284 		12 120982123 intron variant T/C snv 0.32
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1169286
rs1169286 		1.000 0.080 12 120981253 intron variant T/C snv 0.39
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1169286
rs1169286 		1.000 0.080 12 120981253 intron variant T/C snv 0.39
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0342277
Disease: Diabetes mellitus autosomal dominant type II (disorder)
Diabetes mellitus autosomal dominant type II (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019