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
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
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
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
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
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
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
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
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: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
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
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
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
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine 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: rs80356661
rs80356661 		0.882 0.120 13 27924341 missense variant G/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356662
rs80356662 		0.925 0.120 13 27924381 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine 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: rs137852783
rs137852783 		0.882 0.080 13 27920364 missense variant G/A;T snv 2.9E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 0.750 4 1999 2004
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: rs137852784
rs137852784 		0.925 0.080 13 27920314 missense variant A/T snv 1.5E-05 1.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2000
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: rs137852786
rs137852786 		1.000 0.080 13 27924439 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 2 1999 2002
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
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: rs137852785
rs137852785 		0.925 0.080 13 27920190 missense variant T/C snv 1.1E-04 1.0E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2000 2019