PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Disease: Maturity onset diabetes mellitus in young ×
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: 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