rs121913030
|
1.000 |
0.120 |
7 |
107791841 |
missense variant |
T/A
|
snv
|
|
|
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 |
rs386833444
|
1.000 |
0.120 |
7 |
107783296 |
missense variant |
C/G;T
|
snv
|
|
|
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 |
rs386833446
|
1.000 |
0.120 |
7 |
107783077 |
missense variant |
C/G
|
snv
|
2.4E-05
|
7.0E-06
|
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 |
rs386833484
|
1.000 |
0.120 |
7 |
107791093 |
missense variant |
C/G
|
snv
|
|
|
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 |
rs386833487
|
1.000 |
0.120 |
7 |
107789649 |
missense variant |
A/C
|
snv
|
|
|
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 |
rs386833488
|
1.000 |
0.120 |
7 |
107789643 |
missense variant |
A/G
|
snv
|
|
|
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 |
rs386833489
|
1.000 |
0.120 |
7 |
107789600 |
missense variant |
T/G
|
snv
|
|
|
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 |
rs386833454
|
1.000 |
0.120 |
7 |
107779672 |
missense variant |
T/A
|
snv
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833457
|
1.000 |
0.120 |
7 |
107778202 |
missense variant |
A/C
|
snv
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833462
|
1.000 |
0.120 |
7 |
107776662 |
missense variant |
T/C
|
snv
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833463
|
1.000 |
0.120 |
7 |
107776658 |
missense variant |
C/G
|
snv
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833467
|
1.000 |
0.120 |
7 |
107776498 |
missense variant |
A/G;T
|
snv
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833479
|
1.000 |
0.120 |
7 |
107791854 |
missense variant |
C/T
|
snv
|
3.2E-05
|
3.5E-05
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833480
|
1.000 |
0.120 |
7 |
107791232 |
missense variant |
G/A;C;T
|
snv
|
8.0E-06;
4.0E-06;
4.0E-06
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833481
|
0.882 |
0.200 |
7 |
107791226 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
1.6E-05
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs386833483
|
1.000 |
0.120 |
7 |
107791210 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
|
0 |
|
|
rs140426439
|
1.000 |
0.120 |
7 |
107773973 |
missense variant |
C/T
|
snv
|
8.0E-06
|
4.9E-05
|
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 |
rs763669046
|
1.000 |
0.120 |
7 |
107779763 |
missense variant |
A/G
|
snv
|
1.2E-05
|
1.4E-05
|
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 |
rs121913032
|
1.000 |
0.120 |
7 |
107791059 |
stop gained |
C/A
|
snv
|
|
|
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 |
rs121913031
|
1.000 |
0.120 |
7 |
107772089 |
inframe insertion |
-/GAT
|
delins
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121913033
|
1.000 |
0.120 |
7 |
107779689 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1228273365
|
1.000 |
0.120 |
7 |
107783032 |
missense variant |
C/A
|
snv
|
|
7.0E-06
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs143839547
|
1.000 |
0.120 |
7 |
107783020 |
missense variant |
G/A
|
snv
|
3.2E-05
|
1.0E-04
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833445
|
1.000 |
0.120 |
7 |
107783277 |
protein altering variant |
AACCATTGCGATGCCGAA/GGCATC
|
delins
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs386833447
|
1.000 |
0.120 |
7 |
107783064 |
frameshift variant |
AT/-
|
delins
|
|
|
Congenital chloride diarrhea
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|