rs1060499663
|
1.000 |
0.160 |
8 |
38416013 |
frameshift variant |
C/-
|
delins
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1085307879
|
1.000 |
0.160 |
8 |
38414183 |
missense variant |
T/C
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1131691929
|
1.000 |
0.160 |
8 |
38424628 |
missense variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909636
|
0.827 |
0.240 |
8 |
38414569 |
stop gained |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909639
|
0.925 |
0.160 |
8 |
38415899 |
stop gained |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909643
|
1.000 |
0.160 |
8 |
38413918 |
missense variant |
C/A;G
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs727505369
|
0.925 |
0.160 |
8 |
38424624 |
missense variant |
T/C
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs727505373
|
0.925 |
0.160 |
8 |
38429744 |
missense variant |
T/C
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs727505376
|
0.925 |
0.160 |
8 |
38414279 |
missense variant |
C/G;T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs747842199
|
1.000 |
0.160 |
8 |
38429694 |
missense variant |
C/T
|
snv
|
2.8E-05
|
1.4E-05
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs863223331
|
1.000 |
0.160 |
8 |
38427977 |
missense variant |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs876661334
|
0.925 |
0.240 |
8 |
38414778 |
splice donor variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554552774
|
0.925 |
0.200 |
8 |
38418227 |
splice donor variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1554564353
|
1.000 |
0.160 |
8 |
38426242 |
missense variant |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554570813
|
0.925 |
0.200 |
8 |
38429826 |
stop gained |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1554594114
|
1.000 |
0.160 |
8 |
38457441 |
stop gained |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs515726225
|
1.000 |
0.160 |
8 |
38414254 |
missense variant |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs121909627
|
0.776 |
0.200 |
8 |
38424690 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
10 |
1994 |
2014 |
rs121909628
|
0.925 |
0.160 |
8 |
38414892 |
stop gained |
G/A;C
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909635
|
0.827 |
0.240 |
8 |
38426158 |
missense variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909637
|
0.882 |
0.240 |
8 |
38418249 |
missense variant |
C/A;T
|
snv
|
1.2E-05;
2.0E-05
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909640
|
0.925 |
0.160 |
8 |
38429898 |
missense variant |
C/T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909641
|
0.763 |
0.520 |
8 |
38419720 |
missense variant |
G/A
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909644
|
0.925 |
0.160 |
8 |
38413795 |
missense variant |
C/A;T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |
rs121909645
|
0.925 |
0.240 |
8 |
38424696 |
missense variant |
C/G;T
|
snv
|
|
|
Kallmann Syndrome 2 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
15 |
2003 |
2015 |