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 |
rs1402999203
|
1.000 |
0.320 |
4 |
6301801 |
missense variant |
A/G
|
snv
|
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 |
1.000 |
8 |
1998 |
2012 |
rs148953711
|
1.000 |
0.320 |
4 |
6291241 |
missense variant |
G/A
|
snv
|
2.0E-05
|
4.9E-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 |
1.000 |
8 |
1998 |
2012 |
rs35932623
|
1.000 |
0.320 |
4 |
6302247 |
missense variant |
C/T
|
snv
|
5.0E-03
|
4.0E-03
|
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 |
rs369671890
|
1.000 |
0.320 |
4 |
6277628 |
missense variant |
C/A;T
|
snv
|
2.3E-04
|
8.4E-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 |
1.000 |
8 |
1998 |
2012 |
rs372249044
|
1.000 |
0.320 |
4 |
6289068 |
missense variant |
G/A
|
snv
|
1.4E-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 |
1.000 |
8 |
1998 |
2012 |
rs71530910
|
0.882 |
0.360 |
4 |
6301680 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.1E-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 |
1.000 |
8 |
1998 |
2012 |
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 |
rs387906930
|
0.790 |
0.360 |
4 |
6301846 |
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
|
0.700 |
1.000 |
6 |
2001 |
2016 |
rs71530923
|
1.000 |
0.320 |
4 |
6277579 |
stop gained |
C/G;T
|
snv
|
9.3E-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 |
1.000 |
3 |
1998 |
2008 |
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 |
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 |
|
|