SLC9A3, solute carrier family 9 member A3, 6550

N. diseases: 73; N. variants: 15
Disease: Congenital secretory diarrhea, sodium type (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: rs766076524
rs766076524 		1.000 0.120 5 483270 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2015 2015
dbSNP: rs869312806
rs869312806 		1.000 0.120 5 484520 missense variant G/A snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs869312807
rs869312807 		1.000 0.120 5 484647 missense variant C/T snv 7.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs1047334552
rs1047334552 		1.000 0.120 5 491904 missense variant C/T snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs144524702
rs144524702 		1.000 0.120 5 484519 splice donor variant C/T snv 8.0E-06 2.1E-05
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs766583286
rs766583286 		1.000 0.120 5 483376 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs776026092
rs776026092 		1.000 0.120 5 491931 inframe deletion AGA/- delins 1.4E-05
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs869320692
rs869320692 		1.000 0.120 5 477347 frameshift variant G/- del
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs869320759
rs869320759 		1.000 0.120 5 484669 frameshift variant -/C delins 4.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0