Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2255531
rs2255531
HNF1A ; HNF1A-AS1
12 120977112 intron variant G/A snv 0.35
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs2255531
rs2255531
HNF1A ; HNF1A-AS1
12 120977112 intron variant G/A snv 0.35
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.730 1.000 2 2009 2018
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		0.700 1.000 1 2018 2018
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
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
HNF1A ; HNF1A-AS1
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 		0.780 1.000 1 2006 2018
dbSNP: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1800574
rs1800574
HNF1A ; HNF1A-AS1
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 		0.850 0.857 1 2004 2018
dbSNP: rs2244608
rs2244608
HNF1A ; HNF1A-AS1
0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 3 2017 2018
dbSNP: rs2244608
rs2244608
HNF1A ; HNF1A-AS1
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
HNF1A ; HNF1A-AS1
0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2244608
rs2244608
HNF1A ; HNF1A-AS1
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 1 2012 2017
dbSNP: rs2244608
rs2244608
HNF1A ; HNF1A-AS1
0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2244608
rs2244608
HNF1A ; HNF1A-AS1
0.882 0.160 12 120979185 intron variant A/G snv 0.29
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019
dbSNP: rs80019595
rs80019595
HNF1A ; HNF1A-AS1
12 120979503 intron variant C/G;T snv
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs1169286
rs1169286
HNF1A
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: rs11065381
rs11065381
HNF1A
12 120982068 intron variant G/T snv 0.13
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1169284
rs1169284
HNF1A
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: rs7979473
rs7979473
HNF1A
12 120982457 intron variant A/C;G snv
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.800 1.000 2 2012 2019
dbSNP: rs7979473
rs7979473
HNF1A
12 120982457 intron variant A/C;G snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7979478
rs7979478
HNF1A
12 120982460 intron variant A/C;G;T snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2019 2019