rs122467169
|
1.000 |
0.200 |
X |
49251698 |
missense variant |
A/C
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
6 |
2000 |
2011 |
rs28935477
|
1.000 |
0.200 |
X |
49251441 |
missense variant |
G/A
|
snv
|
5.5E-06
|
1.9E-05
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
6 |
2000 |
2011 |
rs886044787
|
1.000 |
0.200 |
X |
49253155 |
missense variant |
G/C
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
7 |
2000 |
2011 |
rs122467170
|
1.000 |
0.200 |
X |
49251480 |
missense variant |
C/T
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2017 |
rs886041596
|
1.000 |
0.200 |
X |
49258295 |
splice donor variant |
C/A;G
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2001 |
rs1057520529
|
0.851 |
0.320 |
X |
49251440 |
missense variant |
C/T
|
snv
|
|
|
Anemia
|
Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057520529
|
0.851 |
0.320 |
X |
49251440 |
missense variant |
C/T
|
snv
|
|
|
Pancytopenia
|
Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057520529
|
0.851 |
0.320 |
X |
49251440 |
missense variant |
C/T
|
snv
|
|
|
Pneumonia
|
Infections; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057520529
|
0.851 |
0.320 |
X |
49251440 |
missense variant |
C/T
|
snv
|
|
|
Bone marrow hypocellularity
|
|
0.700 |
|
0 |
|
|
rs122467171
|
1.000 |
0.200 |
X |
49255492 |
inframe deletion |
CCT/-
|
delins
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs122467172
|
1.000 |
0.200 |
X |
49251692 |
missense variant |
AA/GC
|
mnv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs122467173
|
1.000 |
0.200 |
X |
49253200 |
missense variant |
A/G
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs122467174
|
1.000 |
0.200 |
X |
49258503 |
start lost |
C/T
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs122467175
|
1.000 |
0.200 |
X |
49251711 |
missense variant |
A/G
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1557115532
|
1.000 |
0.200 |
X |
49251408 |
missense variant |
C/T
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1569529565
|
1.000 |
0.200 |
X |
49251358 |
frameshift variant |
ACA/G
|
delins
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1569529715
|
1.000 |
0.200 |
X |
49255756 |
missense variant |
A/C
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs782511378
|
1.000 |
0.120 |
X |
49257483 |
missense variant |
G/A
|
snv
|
2.2E-05
|
|
Diabetes Mellitus, Insulin-Dependent
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs782528935
|
1.000 |
0.200 |
X |
49257447 |
missense variant |
G/A;T
|
snv
|
7.6E-06
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs797045588
|
1.000 |
0.200 |
X |
49255723 |
frameshift variant |
C/-
|
delins
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs3761548
|
0.620 |
0.680 |
X |
49261784 |
intron variant |
G/A;T
|
snv
|
|
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.040 |
1.000 |
4 |
2014 |
2019 |
rs3761548
|
0.620 |
0.680 |
X |
49261784 |
intron variant |
G/A;T
|
snv
|
|
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.040 |
1.000 |
4 |
2014 |
2019 |
rs3761548
|
0.620 |
0.680 |
X |
49261784 |
intron variant |
G/A;T
|
snv
|
|
|
Multiple Sclerosis
|
Immune System Diseases; Nervous System Diseases
|
0.040 |
1.000 |
4 |
2015 |
2019 |
rs3761548
|
0.620 |
0.680 |
X |
49261784 |
intron variant |
G/A;T
|
snv
|
|
|
Allergic rhinitis (disorder)
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases
|
0.030 |
0.667 |
3 |
2011 |
2017 |
rs1057520529
|
0.851 |
0.320 |
X |
49251440 |
missense variant |
C/T
|
snv
|
|
|
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.020 |
1.000 |
2 |
2014 |
2017 |