PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×
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: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0