rs104894119
|
0.807 |
0.160 |
9 |
124500685 |
missense variant |
C/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
9 |
1999 |
2017 |
rs104894120
|
1.000 |
0.160 |
9 |
124482834 |
missense variant |
A/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
9 |
1999 |
2017 |
rs104894124
|
0.925 |
0.160 |
9 |
124503353 |
missense variant |
C/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
9 |
1999 |
2017 |
rs104894125
|
1.000 |
0.160 |
9 |
124503089 |
missense variant |
C/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
9 |
1999 |
2017 |
rs104894126
|
1.000 |
0.160 |
9 |
124500689 |
missense variant |
C/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
9 |
1999 |
2017 |
rs886039769
|
0.807 |
0.160 |
9 |
124500686 |
missense variant |
G/A
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
8 |
1999 |
2017 |
rs1057517779
|
0.851 |
0.160 |
9 |
124493083 |
missense variant |
G/A
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
6 |
2011 |
2016 |
rs1564146922
|
0.925 |
0.160 |
9 |
124482917 |
stop gained |
G/C
|
snv
|
|
|
46,XY Sex Reversal 3
|
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 |
rs104894123
|
1.000 |
0.160 |
9 |
124503348 |
stop gained |
G/A;T
|
snv
|
8.1E-06
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121918656
|
0.925 |
0.160 |
9 |
124503393 |
start lost |
C/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554721235
|
1.000 |
0.160 |
9 |
124493082 |
missense variant |
C/A;T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554721883
|
1.000 |
0.160 |
9 |
124503358 |
frameshift variant |
CACAG/ACAGGTCCAGGTC
|
delins
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs375469069
|
1.000 |
0.160 |
9 |
124500709 |
missense variant |
C/T
|
snv
|
4.1E-06
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs606231205
|
1.000 |
0.160 |
9 |
124503378 |
frameshift variant |
G/-
|
del
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs606231206
|
0.925 |
0.160 |
9 |
124500294 |
frameshift variant |
G/-
|
del
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs606231207
|
0.925 |
0.160 |
9 |
124500570 |
frameshift variant |
C/-
|
del
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs775441984
|
1.000 |
0.160 |
9 |
124503172 |
stop gained |
C/A;T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs863224904
|
1.000 |
0.160 |
9 |
124482934 |
missense variant |
A/C
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121918654
|
0.882 |
0.200 |
9 |
124503218 |
missense variant |
GC/TT
|
mnv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
9 |
1999 |
2017 |
rs121918655
|
0.851 |
0.200 |
9 |
124493143 |
missense variant |
C/T
|
snv
|
|
|
46,XY Sex Reversal 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|