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: rs1800574
rs1800574 		0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.850 0.857 7 2004 2018
dbSNP: rs2259816
rs2259816 		0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.820 1.000 4 2009 2011
dbSNP: rs137853240
rs137853240 		0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 0.917 12 2000 2011
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 2010 2019
dbSNP: rs1183910
rs1183910 		1.000 0.080 12 120983004 intron variant G/A snv 0.28
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 6 2009 2019
dbSNP: rs7310409
rs7310409 		0.925 0.160 12 120987058 intron variant A/C;G;T snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 6 2008 2019
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2018
dbSNP: rs1169310
rs1169310 		12 121001630 3 prime UTR variant G/A snv 0.31
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 4 2008 2019
dbSNP: rs2259816
rs2259816 		0.827 0.280 12 120997784 synonymous variant G/A;T snv 6.7E-06; 0.40
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs2393791
rs2393791 		0.925 0.160 12 120986153 intron variant C/T snv 0.62
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 4 2013 2019
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: 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: 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: rs12427353
rs12427353 		1.000 0.080 12 120989098 intron variant G/A;C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs7310409
rs7310409 		0.925 0.160 12 120987058 intron variant A/C;G;T snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.780 1.000 9 2006 2018
dbSNP: rs1169288
rs1169288 		0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.730 1.000 5 2009 2018
dbSNP: rs776793516
rs776793516 		0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 7 1997 2014
dbSNP: rs776793516
rs776793516 		0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06
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 7 1997 2014
dbSNP: rs137853238
rs137853238 		0.807 0.200 12 120994265 missense variant G/A snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 6 1997 2009
dbSNP: rs137853238
rs137853238 		0.807 0.200 12 120994265 missense variant G/A snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 6 1997 2009
dbSNP: rs1172328722
rs1172328722 		0.925 0.080 12 120988982 missense variant G/A 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 5 1997 2010
dbSNP: rs1057524908
rs1057524908 		0.925 0.080 12 120993686 frameshift variant -/C delins
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 4 2000 2013
dbSNP: rs1057524908
rs1057524908 		0.925 0.080 12 120993686 frameshift variant -/C delins
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 2000 2013
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