rs587776576
|
0.790 |
0.280 |
11 |
32391967 |
splice region variant |
C/T
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
7 |
1992 |
2017 |
rs121907909
|
0.851 |
0.280 |
11 |
32392032 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs1423753702
|
0.807 |
0.280 |
11 |
32396401 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1554939839
|
0.851 |
0.280 |
11 |
32396372 |
frameshift variant |
A/-
|
delins
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1060501253
|
0.882 |
0.200 |
11 |
32428031 |
frameshift variant |
G/-
|
delins
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121907900
|
0.763 |
0.200 |
11 |
32392020 |
missense variant |
G/A
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121907906
|
0.776 |
0.320 |
11 |
32392717 |
stop gained |
G/A
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554945232
|
0.851 |
0.280 |
11 |
32428598 |
frameshift variant |
-/C
|
delins
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554946500
|
0.851 |
0.280 |
11 |
32434883 |
stop gained |
G/A
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554946600
|
0.851 |
0.280 |
11 |
32435027 |
frameshift variant |
C/-
|
delins
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1565000973
|
0.851 |
0.280 |
11 |
32434708 |
frameshift variant |
C/-
|
del
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs267602852
|
0.827 |
0.160 |
11 |
32417631 |
missense variant |
G/A
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs28941779
|
1.000 |
0.160 |
11 |
32392026 |
missense variant |
A/G;T
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776575
|
1.000 |
0.160 |
11 |
32391966 |
splice region variant |
A/G;T
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776577
|
0.925 |
0.160 |
11 |
32391968 |
splice region variant |
G/A
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1049509674
|
0.925 |
0.200 |
11 |
32435341 |
missense variant |
T/C
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1188182005
|
0.925 |
0.200 |
11 |
32430535 |
missense variant |
T/C
|
snv
|
4.2E-06
|
7.1E-06
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |