rs146815072
|
1.000 |
0.120 |
19 |
32830639 |
missense variant |
G/A
|
snv
|
3.6E-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 |
10 |
1999 |
2010 |
rs760264924
|
1.000 |
0.120 |
19 |
32842191 |
missense variant |
T/C
|
snv
|
1.2E-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 |
10 |
1999 |
2010 |
rs774878350
|
1.000 |
0.120 |
19 |
32842248 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.4E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs142270619
|
1.000 |
0.120 |
19 |
32842255 |
missense variant |
G/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 |
|
|
rs939028046
|
1.000 |
0.120 |
19 |
32843869 |
missense variant |
C/T
|
snv
|
1.6E-05
|
2.8E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs769576205
|
1.000 |
0.120 |
19 |
32843931 |
missense variant |
C/T
|
snv
|
4.0E-06
|
7.0E-06
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
1999 |
2010 |
rs121908484
|
1.000 |
0.120 |
19 |
32843932 |
missense variant |
G/A
|
snv
|
8.8E-05
|
4.2E-05
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
1999 |
2012 |
rs768466784
|
1.000 |
0.120 |
19 |
32843937 |
missense variant |
G/A;C
|
snv
|
1.6E-05;
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs201618022
|
1.000 |
0.120 |
19 |
32843941 |
missense variant |
C/A;T
|
snv
|
1.4E-04
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs2868194
|
|
|
19 |
32859154 |
intron variant |
T/C
|
snv
|
|
0.63
|
Uric acid measurement (procedure)
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs755135545
|
1.000 |
0.120 |
19 |
32859857 |
missense variant |
G/A
|
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 |
10 |
1999 |
2010 |
rs1357600282
|
1.000 |
0.120 |
19 |
32859867 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
1999 |
2010 |
rs121908486
|
1.000 |
0.120 |
19 |
32859932 |
missense variant |
G/A
|
snv
|
1.1E-04
|
1.4E-04
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
1999 |
2012 |
rs121908483
|
1.000 |
0.120 |
19 |
32859939 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
10 |
1999 |
2010 |
rs1060499787
|
1.000 |
0.120 |
19 |
32860605 |
splice donor variant |
C/G
|
snv
|
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs766529640
|
1.000 |
0.120 |
19 |
32860606 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs777371504
|
1.000 |
0.120 |
19 |
32860633 |
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 |
10 |
1999 |
2010 |
rs121908487
|
1.000 |
0.120 |
19 |
32862127 |
missense variant |
T/C
|
snv
|
1.1E-04
|
1.2E-04
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
1999 |
2012 |
rs140873167
|
1.000 |
0.120 |
19 |
32862151 |
missense variant |
G/A;C;T
|
snv
|
4.0E-05;
1.2E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
5 |
2002 |
2015 |
rs745319034
|
1.000 |
0.120 |
19 |
32862207 |
frameshift variant |
-/T
|
delins
|
|
1.4E-04
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
5 |
2002 |
2015 |
rs121908482
|
1.000 |
0.120 |
19 |
32862482 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
1999 |
2012 |
rs531029519
|
1.000 |
0.120 |
19 |
32862503 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
1999 |
2010 |
rs368441237
|
1.000 |
0.120 |
19 |
32862506 |
missense variant |
T/A
|
snv
|
3.2E-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 |
10 |
1999 |
2010 |
rs79389353
|
1.000 |
0.120 |
19 |
32862521 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
2.6E-03
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
9 |
1999 |
2015 |
rs121908479
|
0.925 |
0.120 |
19 |
32862557 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
1999 |
2012 |