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: rs137852783
rs137852783
0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.760 0.833 6 2000 2015
dbSNP: rs137852786
rs137852786
1.000 0.080 13 27924439 missense variant G/A snv
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 2 1999 2002
dbSNP: rs137852785
rs137852785
0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 1 2002 2002
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: rs387906777
rs387906777
0.851 0.120 13 27924382 missense variant A/G snv
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2003 2010
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
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
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: rs137852783
rs137852783
0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03
Maturity onset diabetes mellitus in young
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137852784
rs137852784
0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555241857
rs1555241857
0.925 0.120 13 27924351 missense variant A/C snv
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
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: rs193922355
rs193922355
1.000 0.080 13 27924291 missense variant C/A;G snv 8.1E-06
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922356
rs193922356
1.000 0.080 13 27924420 missense variant A/C snv
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922360
rs193922360
1.000 0.080 13 27924622 missense variant A/G snv 7.0E-06
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193929377
rs193929377
0.882 0.120 13 27920321 frameshift variant C/- delins
DIABETES MELLITUS, PERMANENT NEONATAL
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193929377
rs193929377
0.882 0.120 13 27920321 frameshift variant C/- delins
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Nutritional and Metabolic Diseases; Endocrine 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
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Nutritional and Metabolic Diseases; Endocrine 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
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0