PDX1, pancreatic and duodenal homeobox 1, 3651

N. diseases: 185; N. variants: 22
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (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: rs1555241857
rs1555241857 		0.925 0.120 13 27924351 missense variant A/C snv
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922355
rs193922355 		1.000 0.080 13 27924291 missense variant C/A;G snv 8.1E-06
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922356
rs193922356 		1.000 0.080 13 27924420 missense variant A/C snv
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193922360
rs193922360 		1.000 0.080 13 27924622 missense variant A/G snv 7.0E-06
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193929377
rs193929377 		0.882 0.120 13 27920321 frameshift variant C/- delins
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906777
rs387906777 		0.851 0.120 13 27924382 missense variant A/G snv
CUI: C1833382
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0