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: 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: 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: 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