rs1057516192
|
1.000 |
0.120 |
20 |
3083168 |
missense variant |
C/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121964884
|
0.851 |
0.200 |
20 |
3083005 |
stop gained |
G/A;T
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121964889
|
1.000 |
0.120 |
20 |
3082788 |
stop gained |
C/A;T
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121964892
|
1.000 |
|
20 |
3084655 |
missense variant |
G/A
|
snv
|
|
|
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
|
|
0.700 |
|
0 |
|
|
rs121964882
|
1.000 |
0.120 |
20 |
3083037 |
missense variant |
C/T
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964883
|
1.000 |
0.120 |
20 |
3083156 |
missense variant |
C/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964885
|
1.000 |
0.120 |
20 |
3083022 |
missense variant |
C/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964886
|
1.000 |
0.120 |
20 |
3083012 |
missense variant |
C/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964887
|
1.000 |
0.120 |
20 |
3083138 |
missense variant |
C/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964888
|
1.000 |
0.120 |
20 |
3083139 |
missense variant |
C/G
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964890
|
1.000 |
0.120 |
20 |
3083039 |
missense variant |
G/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964891
|
1.000 |
0.120 |
20 |
3083024 |
missense variant |
C/T
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs121964893
|
0.925 |
0.120 |
20 |
3084614 |
missense variant |
A/G
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs142886338
|
1.000 |
0.120 |
20 |
3084598 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
20 |
1992 |
2004 |
rs28934878
|
1.000 |
0.120 |
20 |
3083099 |
missense variant |
A/G
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs387906511
|
1.000 |
0.120 |
20 |
3084620 |
missense variant |
C/T
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs387906512
|
1.000 |
0.120 |
20 |
3084619 |
missense variant |
G/A
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs74315383
|
1.000 |
0.120 |
20 |
3082779 |
missense variant |
A/C
|
snv
|
|
|
Central Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
20 |
1992 |
2004 |
rs1049648051
|
1.000 |
0.080 |
20 |
3082758 |
missense variant |
G/A;T
|
snv
|
|
|
Nephrogenic Diabetes Insipidus, Type I
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs1051744
|
1.000 |
0.080 |
20 |
3082769 |
missense variant |
C/A
|
snv
|
|
|
Congenital Nephrogenic Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs121964884
|
0.851 |
0.200 |
20 |
3083005 |
stop gained |
G/A;T
|
snv
|
|
|
Neuroblastoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121964884
|
0.851 |
0.200 |
20 |
3083005 |
stop gained |
G/A;T
|
snv
|
|
|
Central neuroblastoma
|
Neoplasms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121964884
|
0.851 |
0.200 |
20 |
3083005 |
stop gained |
G/A;T
|
snv
|
|
|
Childhood Neuroblastoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs121964893
|
0.925 |
0.120 |
20 |
3084614 |
missense variant |
A/G
|
snv
|
|
|
Autosomal Dominant Neurohypophyseal Diabetes Insipidus
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1257821596
|
1.000 |
0.040 |
20 |
3083027 |
frameshift variant |
-/C
|
delins
|
|
7.0E-06
|
Squamous cell carcinoma of the head and neck
|
Neoplasms
|
0.010 |
1.000 |
1 |
2010 |
2010 |