rs121908480
|
1.000 |
0.120 |
19 |
32864261 |
missense variant |
C/T
|
snv
|
2.7E-04
|
1.7E-04
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
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 |
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 |
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 |
rs121908485
|
1.000 |
0.120 |
19 |
32864733 |
missense variant |
A/G
|
snv
|
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
11 |
1999 |
2012 |
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 |
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 |
rs1198613438
|
1.000 |
0.120 |
19 |
32864709 |
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 |
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 |
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 |
rs1395997436
|
1.000 |
0.120 |
19 |
32864677 |
missense variant |
C/T
|
snv
|
|
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
1999 |
2010 |
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 |
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 |
rs372306844
|
1.000 |
0.120 |
19 |
32864198 |
missense variant |
C/T
|
snv
|
2.0E-05
|
3.5E-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 |
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 |
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 |
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 |
rs769448665
|
1.000 |
0.120 |
19 |
32864655 |
missense variant |
G/A
|
snv
|
2.0E-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 |
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 |
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 |
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 |
rs79987078
|
1.000 |
0.120 |
19 |
32864206 |
missense variant |
G/A
|
snv
|
1.9E-04
|
2.2E-04
|
Cystinuria
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
9 |
2001 |
2017 |
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 |
rs1085307095
|
1.000 |
0.120 |
19 |
32864778 |
splice acceptor 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 |
1.000 |
2 |
2005 |
2005 |