rs267607012
|
1.000 |
0.160 |
6 |
116895184 |
missense variant |
T/C
|
snv
|
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2014 |
rs267607013
|
1.000 |
0.160 |
6 |
116882404 |
missense variant |
G/A
|
snv
|
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2014 |
rs1445567359
|
1.000 |
0.160 |
6 |
116919268 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2016 |
2016 |
rs144648002
|
1.000 |
0.160 |
6 |
116927317 |
stop gained |
C/G;T
|
snv
|
1.1E-03;
4.0E-06
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1562146029
|
1.000 |
0.160 |
6 |
116920441 |
frameshift variant |
TCTA/-
|
delins
|
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776514
|
1.000 |
0.160 |
6 |
116877954 |
splice donor variant |
T/C
|
snv
|
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776515
|
1.000 |
0.160 |
6 |
116877784 |
intron variant |
A/G
|
snv
|
4.0E-06
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776516
|
1.000 |
0.160 |
6 |
116895209 |
splice donor variant |
T/G
|
snv
|
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776517
|
1.000 |
0.160 |
6 |
116911038 |
splice donor variant |
AGGTATCAATTACA/-
|
delins
|
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587780440
|
1.000 |
0.160 |
6 |
116882403 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs749827445
|
1.000 |
0.160 |
6 |
116928956 |
stop gained |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Mitchell-Riley Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|