rs1234256852
|
1.000 |
0.240 |
1 |
169477153 |
splice donor variant |
A/C
|
snv
|
4.0E-06
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1983546
|
|
|
1 |
169476945 |
intron variant |
A/G
|
snv
|
|
0.47
|
QT interval feature (observable entity)
|
|
0.700 |
1.000 |
2 |
2014 |
2019 |
rs2901092
|
|
|
1 |
169487155 |
non coding transcript exon variant |
A/G
|
snv
|
|
4.7E-02
|
Venous Thromboembolism
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs763099442
|
1.000 |
0.240 |
1 |
169477377 |
frameshift variant |
AA/-
|
del
|
4.0E-06
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs2038024
|
1.000 |
0.080 |
1 |
169486744 |
non coding transcript exon variant |
C/A
|
snv
|
|
0.88
|
Venous Thromboembolism
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs2038024
|
1.000 |
0.080 |
1 |
169486744 |
non coding transcript exon variant |
C/A
|
snv
|
|
0.88
|
Activated Protein C Resistance
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs28937595
|
1.000 |
0.240 |
1 |
169477447 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.810 |
1.000 |
7 |
1999 |
2009 |
rs2678166
|
|
|
1 |
169465789 |
3 prime UTR variant |
C/A;T
|
snv
|
|
|
Venous Thrombosis
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs74315374
|
1.000 |
0.240 |
1 |
169477212 |
stop gained |
C/G;T
|
snv
|
2.8E-05;
4.0E-06
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1553211899
|
1.000 |
0.240 |
1 |
169468785 |
stop gained |
C/T
|
snv
|
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs74315375
|
1.000 |
0.240 |
1 |
169468793 |
stop gained |
C/T
|
snv
|
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121908540
|
1.000 |
0.240 |
1 |
169485615 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs74315373
|
1.000 |
0.240 |
1 |
169477478 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs761957186
|
1.000 |
0.240 |
1 |
169477534 |
missense variant |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
2 |
1999 |
2000 |
rs1557894839
|
1.000 |
0.240 |
1 |
169485697 |
frameshift variant |
GAGCGGT/-
|
del
|
|
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs200879349
|
0.925 |
0.240 |
1 |
169468804 |
missense variant |
T/G
|
snv
|
5.2E-05
|
6.3E-05
|
Thiamine responsive megaloblastic anemia syndrome
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs200879349
|
0.925 |
0.240 |
1 |
169468804 |
missense variant |
T/G
|
snv
|
5.2E-05
|
6.3E-05
|
Diabetes Mellitus
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs200879349
|
0.925 |
0.240 |
1 |
169468804 |
missense variant |
T/G
|
snv
|
5.2E-05
|
6.3E-05
|
Diabetes
|
Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |