rs1553344107
|
1.000 |
0.120 |
2 |
44301059 |
frameshift variant |
-/ATGCACGACATTGTCC
|
delins
|
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs797044609
|
1.000 |
0.120 |
2 |
44304280 |
frameshift variant |
-/TG
|
delins
|
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
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 |
rs3738985
|
1.000 |
0.120 |
2 |
44275649 |
synonymous variant |
A/C
|
snv
|
0.72
|
0.76
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs756887216
|
1.000 |
0.120 |
2 |
44301034 |
missense variant |
A/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 |
|
|
rs200287661
|
1.000 |
0.120 |
2 |
44301012 |
missense variant |
A/C;G
|
snv
|
8.0E-06
|
2.1E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs766947722
|
1.000 |
0.120 |
2 |
44275906 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs778354350
|
1.000 |
0.120 |
2 |
44280737 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs778925791
|
1.000 |
0.120 |
2 |
44313863 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs1424215334
|
1.000 |
0.120 |
2 |
44280805 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
Ataxia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1424215334
|
1.000 |
0.120 |
2 |
44280805 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
Cerebellar Ataxia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1424215334
|
1.000 |
0.120 |
2 |
44280805 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
Cystinuria type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs201502095
|
1.000 |
0.120 |
2 |
44312607 |
missense variant |
C/A;G;T
|
snv
|
8.0E-06;
8.4E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
17 |
1994 |
2015 |
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 |
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 |
rs140317484
|
1.000 |
0.120 |
2 |
44280851 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
2.7E-03
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs576810133
|
1.000 |
0.120 |
2 |
44275918 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
2.0E-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 |
rs1032513393
|
1.000 |
0.120 |
2 |
44313856 |
missense variant |
C/G
|
snv
|
|
7.0E-06
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
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 |
rs369641941
|
0.925 |
0.120 |
2 |
44281423 |
missense variant |
C/G;T
|
snv
|
9.1E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.710 |
1.000 |
13 |
1994 |
2013 |
rs369641941
|
0.925 |
0.120 |
2 |
44281423 |
missense variant |
C/G;T
|
snv
|
9.1E-05
|
|
Cystinuria type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs375399468
|
1.000 |
0.120 |
2 |
44301075 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
6.8E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs949704245
|
1.000 |
0.120 |
2 |
44312617 |
missense variant |
C/G;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs139251285
|
1.000 |
0.120 |
2 |
44312619 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
12 |
1994 |
2010 |
rs765828196
|
1.000 |
0.120 |
2 |
44301084 |
missense variant |
C/T
|
snv
|
2.0E-05
|
4.9E-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 |