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 |
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 |
|
|
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 |
|
|
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 |
rs200554980
|
1.000 |
0.200 |
X |
49257541 |
missense variant |
G/A
|
snv
|
2.6E-04
|
2.3E-04
|
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
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs782112916
|
1.000 |
0.200 |
X |
49251335 |
stop retained variant |
C/T
|
snv
|
|
3.8E-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
|
0.010 |
1.000 |
1 |
2017 |
2017 |