SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58
Disease: Congenital chloride diarrhea ×
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: rs121913033
rs121913033 		1.000 0.120 7 107779689 stop gained C/T snv 4.0E-06
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0