PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Disease: Diabetes Mellitus ×
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: 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
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