PAX4, paired box 4, 5078

N. diseases: 63; N. variants: 8
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) ×
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: 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