rs104894968
|
1.000 |
0.160 |
Y |
2787401 |
missense variant |
A/G
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
24 |
1990 |
2007 |
rs104894973
|
1.000 |
0.160 |
Y |
2787224 |
missense variant |
T/A;C
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
24 |
1990 |
2017 |
rs104894956
|
1.000 |
0.160 |
Y |
2787278 |
missense variant |
A/G
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894957
|
1.000 |
0.160 |
Y |
2787426 |
missense variant |
C/G
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894959
|
0.925 |
0.160 |
Y |
2787334 |
missense variant |
G/C
|
snv
|
1.5E-05
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894964
|
1.000 |
0.160 |
Y |
2787287 |
missense variant |
T/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894966
|
0.882 |
0.200 |
Y |
2787267 |
missense variant |
C/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894969
|
1.000 |
0.160 |
Y |
2787412 |
missense variant |
C/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894971
|
0.882 |
0.200 |
Y |
2787551 |
missense variant |
C/T
|
snv
|
4.4E-05
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894972
|
0.807 |
0.240 |
Y |
2787320 |
missense variant |
C/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894974
|
0.925 |
0.160 |
Y |
2787321 |
missense variant |
C/G
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs104894976
|
1.000 |
0.160 |
Y |
2787207 |
missense variant |
G/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
21 |
1990 |
2007 |
rs764249635
|
1.000 |
0.160 |
Y |
2787425 |
missense variant |
A/G
|
snv
|
1.5E-05
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
20 |
1990 |
2007 |
rs1556370548
|
1.000 |
0.160 |
Y |
2787316 |
stop gained |
G/C
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
1990 |
1990 |
rs1556370558
|
1.000 |
0.160 |
Y |
2787341 |
stop gained |
G/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
1990 |
1990 |
rs104894958
|
1.000 |
0.160 |
Y |
2787327 |
stop gained |
G/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104894965
|
1.000 |
0.160 |
Y |
2787395 |
stop gained |
C/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104894967
|
1.000 |
0.160 |
Y |
2787284 |
stop gained |
C/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104894970
|
1.000 |
0.160 |
Y |
2787330 |
stop gained |
T/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104894975
|
1.000 |
0.160 |
Y |
2787592 |
stop gained |
A/T
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104894977
|
1.000 |
0.160 |
Y |
2787600 |
stop gained |
G/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057519627
|
1.000 |
0.160 |
Y |
2787377 |
missense variant |
C/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1556370543
|
0.925 |
0.160 |
Y |
2787273 |
stop gained |
G/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1556370556
|
1.000 |
0.160 |
Y |
2787339 |
frameshift variant |
-/T
|
delins
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1556370576
|
1.000 |
0.160 |
Y |
2787515 |
missense variant |
C/A
|
snv
|
|
|
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|