SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58
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: rs386833450
rs386833450 		1.000 0.120 7 107779732 frameshift variant AA/- del
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
dbSNP: rs386833452
rs386833452 		1.000 0.120 7 107779713 frameshift variant C/- del
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
dbSNP: rs386833458
rs386833458 		1.000 0.120 7 107776708 splice acceptor variant T/- del
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
dbSNP: rs386833460
rs386833460 		1.000 0.120 7 107776694 frameshift variant GC/- del
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
dbSNP: rs386833469
rs386833469 		1.000 0.120 7 107773937 frameshift variant C/- del
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
dbSNP: rs386833478
rs386833478 		1.000 0.120 7 107791868 frameshift variant A/- del 7.0E-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
dbSNP: rs386833482
rs386833482 		0.882 0.200 7 107791226 frameshift variant G/- delins
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs386833482
rs386833482 		0.882 0.200 7 107791226 frameshift variant G/- delins
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121913031
rs121913031 		1.000 0.120 7 107772089 inframe insertion -/GAT delins
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
dbSNP: rs386833445
rs386833445 		1.000 0.120 7 107783277 protein altering variant AACCATTGCGATGCCGAA/GGCATC delins
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
dbSNP: rs386833447
rs386833447 		1.000 0.120 7 107783064 frameshift variant AT/- delins
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
dbSNP: rs386833456
rs386833456 		1.000 0.120 7 107793856 frameshift variant CTCTTGGCCTTTT/- delins
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
dbSNP: rs386833459
rs386833459 		1.000 0.120 7 107776704 frameshift variant G/- delins
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
dbSNP: rs386833461
rs386833461 		1.000 0.120 7 107776667 frameshift variant GGTT/- delins
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
dbSNP: rs386833464
rs386833464 		1.000 0.120 7 107776640 inframe deletion AAT/- delins 8.0E-06 7.0E-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
dbSNP: rs386833465
rs386833465 		1.000 0.120 7 107776520 frameshift variant T/- delins 7.0E-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
dbSNP: rs386833466
rs386833466 		1.000 0.120 7 107776503 frameshift variant AGA/G delins
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
dbSNP: rs386833468
rs386833468 		1.000 0.120 7 107793835 frameshift variant -/G delins 4.0E-06; 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
dbSNP: rs386833472
rs386833472 		1.000 0.120 7 107767866 frameshift variant CC/AAATTTTGAATTTTCACTTCAAAACCGGT;C delins
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
dbSNP: rs386833473
rs386833473 		1.000 0.120 7 107767855 frameshift variant T/-;TT delins
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
dbSNP: rs386833476
rs386833476 		1.000 0.120 7 107793742 frameshift variant -/TT delins 8.0E-06 1.4E-05
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
dbSNP: rs386833477
rs386833477 		1.000 0.120 7 107791880 frameshift variant A/- delins
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
dbSNP: rs386833482
rs386833482 		0.882 0.200 7 107791226 frameshift variant G/- delins
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
dbSNP: rs386833491
rs386833491 		1.000 0.120 7 107786845 inframe deletion CAC/- delins 4.7E-04 3.7E-04
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
dbSNP: rs121913030
rs121913030 		1.000 0.120 7 107791841 missense variant T/A snv
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 0.800 1.000 10 1996 2017