rs148932323
|
1.000 |
0.120 |
6 |
51746853 |
missense variant |
C/A;T
|
snv
|
3.2E-03
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs147222255
|
1.000 |
0.120 |
6 |
51791331 |
missense variant |
C/G;T
|
snv
|
2.7E-03;
1.2E-05
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs141103838
|
1.000 |
0.120 |
6 |
52024676 |
missense variant |
C/T
|
snv
|
7.4E-04
|
5.6E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs149522482
|
1.000 |
0.120 |
6 |
52071021 |
missense variant |
C/T
|
snv
|
7.1E-04
|
1.9E-03
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs137852949
|
0.925 |
0.240 |
6 |
52058349 |
stop gained |
G/A;C
|
snv
|
6.6E-04;
4.0E-06
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2003 |
2010 |
rs746972457
|
0.925 |
0.240 |
6 |
52026044 |
frameshift variant |
G/-
|
delins
|
5.1E-04
|
2.2E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs201881567
|
1.000 |
0.120 |
6 |
51883179 |
missense variant |
A/C;G
|
snv
|
5.0E-04;
2.4E-05
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
2002 |
2015 |
rs200179145
|
1.000 |
0.120 |
6 |
51903601 |
missense variant |
A/G;T
|
snv
|
4.0E-06;
4.6E-04
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
13 |
2002 |
2016 |
rs137852944
|
0.925 |
0.240 |
6 |
52083201 |
missense variant |
G/A
|
snv
|
4.5E-04
|
4.7E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.810 |
1.000 |
19 |
2002 |
2015 |
rs149798764
|
1.000 |
0.120 |
6 |
51744505 |
missense variant |
A/G
|
snv
|
3.3E-04
|
2.6E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
9 |
2002 |
2015 |
rs201105958
|
1.000 |
0.120 |
6 |
52017512 |
missense variant |
G/A
|
snv
|
1.7E-04
|
9.1E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs751084512
|
1.000 |
0.120 |
6 |
51903686 |
missense variant |
T/A
|
snv
|
1.6E-04
|
1.0E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
10 |
2002 |
2015 |
rs200391019
|
0.925 |
0.120 |
6 |
52024940 |
missense variant |
G/A
|
snv
|
1.5E-04
|
6.3E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
8 |
1975 |
2016 |
rs142146981
|
1.000 |
0.120 |
6 |
51748375 |
missense variant |
T/C
|
snv
|
1.4E-04
|
1.3E-04
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
2002 |
2015 |
rs369925690
|
0.925 |
0.120 |
6 |
52071009 |
missense variant |
T/C;G
|
snv
|
1.0E-04
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
14 |
2002 |
2015 |
rs199568593
|
1.000 |
0.120 |
6 |
52046089 |
missense variant |
A/G
|
snv
|
8.0E-05
|
2.1E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
5 |
2014 |
2018 |
rs146680689
|
1.000 |
0.120 |
6 |
51619437 |
missense variant |
G/A
|
snv
|
7.2E-05
|
7.0E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
10 |
2002 |
2015 |
rs137852950
|
1.000 |
0.120 |
6 |
51659714 |
missense variant |
A/C
|
snv
|
7.2E-05
|
8.4E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
10 |
2002 |
2015 |
rs748863662
|
1.000 |
0.120 |
6 |
51659724 |
missense variant |
T/C
|
snv
|
7.2E-05
|
3.5E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs398124502
|
1.000 |
0.120 |
6 |
51747927 |
frameshift variant |
T/-
|
del
|
7.2E-05
|
4.9E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
5 |
2003 |
2014 |
rs148300854
|
1.000 |
0.120 |
6 |
51659382 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
5.6E-05
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs398124483
|
1.000 |
0.120 |
6 |
52079937 |
frameshift variant |
C/-
|
del
|
5.6E-05
|
2.8E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2004 |
2005 |
rs148617572
|
1.000 |
0.120 |
6 |
51659682 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.1E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
6 |
2003 |
2016 |
rs200511261
|
1.000 |
0.120 |
6 |
51748086 |
missense variant |
A/G
|
snv
|
5.2E-05
|
4.9E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
8 |
2003 |
2014 |
rs760222236
|
1.000 |
0.120 |
6 |
51753281 |
missense variant |
A/G
|
snv
|
5.2E-05
|
7.0E-05
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
16 |
2002 |
2016 |