PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
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: rs114202595
rs114202595 		0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.850 1.000 7 2001 2013
dbSNP: rs2233580
rs2233580 		0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.740 0.833 6 2013 2019
dbSNP: rs2233578
rs2233578 		0.925 0.120 7 127614497 missense variant G/A;T snv 7.0E-03; 4.5E-06
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 < 0.001 1 2004 2004
dbSNP: rs121917718
rs121917718 		0.925 0.080 7 127613804 missense variant G/A snv 5.2E-05 3.5E-05
CUI: C2677132
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs371715169
rs371715169 		1.000 0.080 7 127611677 splice acceptor variant C/T snv 4.1E-06 7.1E-06
CUI: C2677132
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs2233580
rs2233580 		0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2007 2019
dbSNP: rs2233580
rs2233580 		0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2007 2019
dbSNP: rs114202595
rs114202595 		0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs114202595
rs114202595 		0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs114202595
rs114202595 		0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121917718
rs121917718 		0.925 0.080 7 127613804 missense variant G/A snv 5.2E-05 3.5E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs121917718
rs121917718 		0.925 0.080 7 127613804 missense variant G/A snv 5.2E-05 3.5E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2233578
rs2233578 		0.925 0.120 7 127614497 missense variant G/A;T snv 7.0E-03; 4.5E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2233580
rs2233580 		0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2233580
rs2233580 		0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs35155575
rs35155575 		1.000 0.120 7 127615412 missense variant G/A snv 4.3E-04 1.5E-03
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs712699
rs712699 		7 127610543 3 prime UTR variant G/A snv 0.75
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs712701
rs712701 		1.000 0.080 7 127611134 missense variant T/G snv 0.73 0.75
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2016 2016