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: 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
dbSNP: rs140426439
rs140426439 		1.000 0.120 7 107773973 missense variant C/T snv 8.0E-06 4.9E-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 0.710 1.000 10 1996 2017
dbSNP: rs386833444
rs386833444 		1.000 0.120 7 107783296 missense variant C/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 1.000 10 1996 2017
dbSNP: rs386833446
rs386833446 		1.000 0.120 7 107783077 missense variant C/G snv 2.4E-05 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 1.000 10 1996 2017
dbSNP: rs386833484
rs386833484 		1.000 0.120 7 107791093 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 1.000 10 1996 2017
dbSNP: rs386833487
rs386833487 		1.000 0.120 7 107789649 missense variant 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 0.800 1.000 10 1996 2017
dbSNP: rs386833488
rs386833488 		1.000 0.120 7 107789643 missense variant A/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 1.000 10 1996 2017
dbSNP: rs386833489
rs386833489 		1.000 0.120 7 107789600 missense variant T/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 1.000 10 1996 2017
dbSNP: rs763669046
rs763669046 		1.000 0.120 7 107779763 missense variant A/G snv 1.2E-05 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 1.000 10 1996 2017
dbSNP: rs121913032
rs121913032 		1.000 0.120 7 107791059 stop gained C/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 0.700 1.000 8 1998 2017
dbSNP: rs1460002897
rs1460002897 		1.000 0.120 7 107793769 missense variant T/C snv 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs17154444
rs17154444 		1.000 0.040 7 107795423 intron variant T/C snv 4.8E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs191547831
rs191547831 		7 107772054 missense variant C/G snv 8.4E-04 8.6E-04
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs386833481
rs386833481 		0.882 0.200 7 107791226 missense variant G/A;C snv 1.2E-05; 1.6E-05
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs386833481
rs386833481 		0.882 0.200 7 107791226 missense variant G/A;C snv 1.2E-05; 1.6E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs1228273365
rs1228273365 		1.000 0.120 7 107783032 missense variant C/A 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 0.700 0
dbSNP: rs143839547
rs143839547 		1.000 0.120 7 107783020 missense variant G/A snv 3.2E-05 1.0E-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: rs386833448
rs386833448 		1.000 0.120 7 107782802 stop gained G/A;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 0.700 0
dbSNP: rs386833449
rs386833449 		1.000 0.120 7 107779764 splice acceptor variant 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
dbSNP: rs386833451
rs386833451 		1.000 0.120 7 107779715 stop gained G/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 0.700 0
dbSNP: rs386833453
rs386833453 		1.000 0.120 7 107779688 stop gained G/A;T snv 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: rs386833454
rs386833454 		1.000 0.120 7 107779672 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 0
dbSNP: rs386833455
rs386833455 		1.000 0.120 7 107778282 splice acceptor variant C/T snv 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: rs386833457
rs386833457 		1.000 0.120 7 107778202 missense variant 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 0.800 0