rs121912693
|
1.000 |
0.120 |
2 |
44320614 |
missense variant |
T/C
|
snv
|
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1994 |
2012 |
rs121912695
|
1.000 |
0.120 |
2 |
44320536 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1994 |
2012 |
rs121912696
|
1.000 |
0.120 |
2 |
44320424 |
missense variant |
C/A;T
|
snv
|
1.6E-05;
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
1994 |
2012 |
rs141944551
|
1.000 |
0.120 |
2 |
44320380 |
missense variant |
G/A
|
snv
|
8.0E-05
|
9.1E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs146963107
|
1.000 |
0.120 |
2 |
44320377 |
missense variant |
T/C
|
snv
|
4.8E-05
|
4.2E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs368796166
|
1.000 |
0.120 |
2 |
44320221 |
stop gained |
C/A;G;T
|
snv
|
2.0E-05;
3.6E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs776729515
|
1.000 |
0.120 |
2 |
44320325 |
missense variant |
T/C
|
snv
|
4.0E-06
|
1.4E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs775827496
|
1.000 |
0.120 |
2 |
44320330 |
frameshift variant |
A/-
|
delins
|
2.4E-05
|
4.2E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
1995 |
2017 |
rs1279289214
|
1.000 |
0.120 |
2 |
44320524 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs376639206
|
1.000 |
0.120 |
2 |
44320283 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs756823144
|
1.000 |
0.120 |
2 |
44320598 |
missense variant |
T/C
|
snv
|
1.2E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs759696513
|
1.000 |
0.120 |
2 |
44320332 |
missense variant |
G/C
|
snv
|
8.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|