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: rs386833462
rs386833462 		1.000 0.120 7 107776662 missense variant T/C 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 0
dbSNP: rs386833463
rs386833463 		1.000 0.120 7 107776658 missense variant C/G 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 0
dbSNP: rs386833467
rs386833467 		1.000 0.120 7 107776498 missense variant A/G;T 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 0
dbSNP: rs386833471
rs386833471 		1.000 0.120 7 107767909 splice acceptor variant C/A snv 3.6E-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: rs386833474
rs386833474 		1.000 0.120 7 107767839 stop gained A/C 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 0.700 0
dbSNP: rs386833475
rs386833475 		1.000 0.120 7 107767763 splice region variant T/C 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
dbSNP: rs386833479
rs386833479 		1.000 0.120 7 107791854 missense variant C/T snv 3.2E-05 3.5E-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 0.800 0
dbSNP: rs386833480
rs386833480 		1.000 0.120 7 107791232 missense variant G/A;C;T snv 8.0E-06; 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 0.800 0
dbSNP: rs386833481
rs386833481 		0.882 0.200 7 107791226 missense variant G/A;C snv 1.2E-05; 1.6E-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 0.800 0
dbSNP: rs386833483
rs386833483 		1.000 0.120 7 107791210 missense variant C/T snv 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 0.800 0
dbSNP: rs386833485
rs386833485 		1.000 0.120 7 107789689 splice acceptor variant C/A;T snv 8.1E-06; 1.2E-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: rs386833486
rs386833486 		1.000 0.120 7 107789690 splice acceptor variant T/C snv 3.2E-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: rs386833490
rs386833490 		1.000 0.120 7 107786883 stop gained G/A;T snv 6.0E-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: 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