PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: PANCREATIC AGENESIS 1 ×
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: rs1555241857
rs1555241857 		0.925 0.120 13 27924351 missense variant A/C snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs80356661
rs80356661 		0.882 0.120 13 27924341 missense variant G/T snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0
dbSNP: rs80356662
rs80356662 		0.925 0.120 13 27924381 missense variant G/A snv
CUI: C3891828
Disease: PANCREATIC AGENESIS 1
PANCREATIC AGENESIS 1 		Digestive System Diseases 0.700 0