rs199946797
|
0.882 |
0.360 |
4 |
6301467 |
missense variant |
C/A;T
|
snv
|
6.7E-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
|
0.800 |
|
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 |
|
|
rs104893880
|
1.000 |
0.320 |
4 |
6291961 |
stop gained |
C/T
|
snv
|
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 |
|
|
rs104893881
|
1.000 |
0.320 |
4 |
6302250 |
stop gained |
C/G;T
|
snv
|
|
|
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 |
|
|
rs1362648752
|
1.000 |
0.320 |
4 |
6289078 |
frameshift variant |
-/GGCCGTCGCGAGGCTG
|
delins
|
4.4E-05
|
2.8E-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 |
|
|
rs145639028
|
0.925 |
0.320 |
4 |
6289047 |
missense variant |
G/A
|
snv
|
2.2E-05
|
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 |
|
|
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 |
|
|
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 |
|
|
rs28937890
|
1.000 |
0.320 |
4 |
6301966 |
missense variant |
C/T
|
snv
|
3.2E-05
|
7.0E-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 |
|
|
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 |
|
|
rs28937892
|
1.000 |
0.320 |
4 |
6301306 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
3.6E-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 |
|
|
rs369107336
|
1.000 |
0.320 |
4 |
6302164 |
stop gained |
C/A;G;T
|
snv
|
3.3E-05;
1.9E-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 |
|
|
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 |
|
|
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 |
|
|
rs746923441
|
1.000 |
0.320 |
4 |
6300669 |
missense variant |
C/A;T
|
snv
|
8.0E-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 |
|
|
rs777580652
|
1.000 |
0.320 |
4 |
6300668 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
1.2E-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 |
|
|
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 |
|
|
rs797046113
|
1.000 |
0.320 |
4 |
6301484 |
inframe deletion |
CCTCTT/-
|
delins
|
|
|
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 |
|
|
rs1560408865
|
1.000 |
0.320 |
4 |
6289109 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
2013 |
2013 |
rs752461187
|
1.000 |
0.320 |
4 |
6291304 |
inframe insertion |
AAG/-;AAGAAG
|
delins
|
|
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 |
2014 |
2014 |
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 |
rs13127445
|
1.000 |
0.320 |
4 |
6269423 |
upstream gene variant |
C/G
|
snv
|
|
0.56
|
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
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1801211
|
1.000 |
0.320 |
4 |
6301440 |
missense variant |
C/G;T
|
snv
|
|
|
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
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs4689388
|
0.882 |
0.360 |
4 |
6268329 |
upstream gene variant |
G/A
|
snv
|
|
0.64
|
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
|
0.010 |
1.000 |
1 |
2016 |
2016 |