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: rs1565886545
rs1565886545 		0.925 0.080 12 120996261 splice acceptor variant G/A;C 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 0.700 1.000 3 2009 2013
dbSNP: rs1565886545
rs1565886545 		0.925 0.080 12 120996261 splice acceptor variant G/A;C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 3 2009 2013
dbSNP: rs2244608
rs2244608 		0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 3 2017 2018
dbSNP: rs2244608
rs2244608 		0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 3 2012 2013
dbSNP: rs2464196
rs2464196 		0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 3 2013 2014
dbSNP: rs7979473
rs7979473 		12 120982457 intron variant A/C;G snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 3 2012 2019
dbSNP: rs1057520504
rs1057520504 		0.882 0.080 12 120994238 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 0.020 0.500 2 2009 2015
dbSNP: rs11065385
rs11065385 		12 120985583 intron variant A/G snv 0.72
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2012 2013
dbSNP: rs1169286
rs1169286 		1.000 0.080 12 120981253 intron variant T/C snv 0.39
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2012 2013
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2006 2019
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs1169305
rs1169305 		1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2000 2002
dbSNP: rs1169305
rs1169305 		1.000 0.040 12 120999579 missense variant A/G snv 1.00 0.99
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2000 2002
dbSNP: rs1169306
rs1169306 		12 121000508 3 prime UTR variant C/T snv 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs137853238
rs137853238 		0.807 0.200 12 120994265 missense variant G/A snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2011
dbSNP: rs1800574
rs1800574 		0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2008 2018
dbSNP: rs1800574
rs1800574 		0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2008 2018
dbSNP: rs2244608
rs2244608 		0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2013 2019
dbSNP: rs2244608
rs2244608 		0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2017
dbSNP: rs2259820
rs2259820 		0.882 0.160 12 120997539 synonymous variant C/T snv 0.34 0.26
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs2393775
rs2393775 		12 120986771 intron variant G/A;C snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs2464195
rs2464195 		12 120997672 missense variant G/A snv 0.39 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 2 2013 2014
dbSNP: rs2464196
rs2464196 		0.742 0.320 12 120997624 missense variant G/A snv 0.34 0.27
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2016