PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
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: rs7981781
rs7981781 		13 27925825 3 prime UTR variant G/A;C snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2017 2017
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7993724
rs7993724 		13 27919139 upstream gene variant T/C snv 5.6E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs146021107
rs146021107 		13 27920030 5 prime UTR variant G/- delins 0.22
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs755703581
rs755703581 		0.925 0.120 13 27920295 missense variant G/A snv 2.3E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1375604780
rs1375604780 		1.000 0.080 13 27920433 missense variant C/A;T snv 5.3E-06; 5.3E-06
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs1555241857
rs1555241857 		0.925 0.120 13 27924351 missense variant A/C snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs80356661
rs80356661 		0.882 0.120 13 27924341 missense variant G/T snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs80356662
rs80356662 		0.925 0.120 13 27924381 missense variant G/A snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs9581943
rs9581943 		1.000 0.120 13 27919860 upstream gene variant G/A snv 0.31
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 3 2014 2018
dbSNP: rs137852783
rs137852783 		0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.040 0.750 4 1999 2004
dbSNP: rs137852785
rs137852785 		0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2000 2019
dbSNP: rs137852784
rs137852784 		0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 1999 2000
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs143517122
rs143517122 		1.000 0.040 13 27924267 missense variant G/A;T snv 2.1E-04; 4.2E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs192902098
rs192902098 		1.000 0.040 13 27920235 missense variant C/A;G;T snv 2.6E-03; 3.4E-04; 5.6E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs137852787
rs137852787 		0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs137852783
rs137852783 		0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.760 0.833 6 2000 2015