rs121908106
|
0.925 |
0.200 |
18 |
49936276 |
missense variant |
G/A
|
snv
|
4.3E-06
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.820 |
1.000 |
7 |
2008 |
2018 |
rs121908103
|
1.000 |
0.200 |
18 |
50036982 |
missense variant |
A/C;G
|
snv
|
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2008 |
2014 |
rs121908105
|
1.000 |
0.200 |
18 |
49936289 |
missense variant |
G/A;C;T
|
snv
|
1.7E-05;
1.3E-05;
2.2E-05
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2008 |
2014 |
rs1555648414
|
1.000 |
0.200 |
18 |
49974470 |
missense variant |
C/T
|
snv
|
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2008 |
2014 |
rs121908106
|
0.925 |
0.200 |
18 |
49936276 |
missense variant |
G/A
|
snv
|
4.3E-06
|
|
Cholestasis
|
Digestive System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs727505394
|
1.000 |
0.200 |
18 |
49936250 |
splice donor variant |
A/G;T
|
snv
|
4.7E-06
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs727505395
|
1.000 |
0.200 |
18 |
49878940 |
splice region variant |
C/T
|
snv
|
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1555793103
|
0.882 |
0.240 |
18 |
49836710 |
splice donor variant |
C/G
|
snv
|
|
|
Hyperchloremia
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555793103
|
0.882 |
0.240 |
18 |
49836710 |
splice donor variant |
C/G
|
snv
|
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555793103
|
0.882 |
0.240 |
18 |
49836710 |
splice donor variant |
C/G
|
snv
|
|
|
Secretory diarrhea
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1555793103
|
0.882 |
0.240 |
18 |
49836710 |
splice donor variant |
C/G
|
snv
|
|
|
Premature Birth
|
Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs1555793199
|
0.882 |
0.240 |
18 |
49837750 |
frameshift variant |
G/-
|
delins
|
|
|
Premature Birth
|
Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs1555793199
|
0.882 |
0.240 |
18 |
49837750 |
frameshift variant |
G/-
|
delins
|
|
|
Hyperchloremia
|
Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1555793199
|
0.882 |
0.240 |
18 |
49837750 |
frameshift variant |
G/-
|
delins
|
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555793199
|
0.882 |
0.240 |
18 |
49837750 |
frameshift variant |
G/-
|
delins
|
|
|
Secretory diarrhea
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1568049625
|
1.000 |
0.200 |
18 |
49963032 |
splice acceptor variant |
T/C
|
snv
|
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs762039116
|
1.000 |
0.200 |
18 |
49839231 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1324907355
|
1.000 |
0.200 |
18 |
50001365 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1283622290
|
1.000 |
0.200 |
18 |
49974369 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1053713532
|
1.000 |
0.200 |
18 |
49992388 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs753558336
|
1.000 |
0.200 |
18 |
49984718 |
missense variant |
C/T
|
snv
|
6.8E-05
|
2.8E-05
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908104
|
1.000 |
0.200 |
18 |
49974547 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.8E-05
|
Microvillus inclusion disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs541889526
|
|
|
18 |
50159516 |
intron variant |
A/T
|
snv
|
|
1.0E-03
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs541889526
|
|
|
18 |
50159516 |
intron variant |
A/T
|
snv
|
|
1.0E-03
|
Phospholipid measurement
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs146524044
|
|
|
18 |
50057046 |
intron variant |
A/C
|
snv
|
|
1.0E-03
|
Phospholipid measurement
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |