rs199910987
|
1.000 |
0.320 |
4 |
6301405 |
missense variant |
G/A
|
snv
|
1.0E-04;
4.0E-06
|
3.3E-04
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104893879
|
1.000 |
0.320 |
4 |
6301739 |
stop gained |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs71532864
|
1.000 |
0.320 |
4 |
6302001 |
missense variant |
G/A;C
|
snv
|
3.3E-05;
4.1E-06
|
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs147974629
|
1.000 |
0.320 |
4 |
6301104 |
missense variant |
G/A;C;T
|
snv
|
6.3E-04;
4.0E-06;
8.0E-06
|
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs28937891
|
1.000 |
0.320 |
4 |
6301879 |
missense variant |
G/A;T
|
snv
|
4.8E-05;
8.0E-06
|
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs71524377
|
1.000 |
0.320 |
4 |
6301914 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs754373473
|
1.000 |
0.320 |
4 |
6301863 |
missense variant |
T/C
|
snv
|
8.0E-06
|
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2012 |
rs797045075
|
1.000 |
0.320 |
4 |
6302058 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797045076
|
1.000 |
0.320 |
4 |
6302441 |
frameshift variant |
TCTT/-
|
delins
|
|
1.2E-04
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797046112
|
1.000 |
0.320 |
4 |
6301030 |
inframe deletion |
TTC/-
|
delins
|
|
1.4E-05
|
Wolfram Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|