rs1553925453
|
0.925 |
0.120 |
4 |
88038371 |
missense variant |
C/T
|
snv
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
9 |
2002 |
2017 |
rs749004212
|
1.000 |
0.120 |
4 |
88038365 |
stop gained |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
7 |
1999 |
2016 |
rs1131692280
|
0.925 |
0.120 |
4 |
88043458 |
splice donor variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
5 |
2000 |
2012 |
rs121918040
|
0.925 |
0.120 |
4 |
88065479 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
1996 |
2013 |
rs1187336837
|
1.000 |
0.120 |
4 |
88007931 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
1999 |
2012 |
rs1302726543
|
0.925 |
0.120 |
4 |
88019499 |
stop gained |
C/T
|
snv
|
|
7.0E-06
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2012 |
2016 |
rs1553927080
|
1.000 |
0.120 |
4 |
88058104 |
splice donor variant |
G/A
|
snv
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2007 |
2012 |
rs1060503526
|
0.925 |
0.120 |
4 |
88038380 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1232369409
|
1.000 |
0.120 |
4 |
88008244 |
frameshift variant |
G/-
|
delins
|
|
7.0E-06
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1391596181
|
1.000 |
0.120 |
4 |
88046647 |
stop gained |
T/A;C
|
snv
|
4.0E-06
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553926509
|
1.000 |
0.120 |
4 |
88052018 |
frameshift variant |
TA/-
|
delins
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1553926905
|
1.000 |
0.120 |
4 |
88056143 |
stop gained |
C/T
|
snv
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1560592253
|
1.000 |
0.120 |
4 |
88008174 |
frameshift variant |
G/-
|
delins
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121918043
|
0.925 |
0.120 |
4 |
88046854 |
missense variant |
A/T
|
snv
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1392093609
|
1.000 |
0.120 |
4 |
88007759 |
missense variant |
C/T
|
snv
|
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
< 0.001 |
1 |
2003 |
2003 |
rs754868200
|
0.925 |
0.200 |
4 |
88052022 |
missense variant |
A/G
|
snv
|
1.6E-05
|
7.0E-06
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs778235410
|
0.925 |
0.120 |
4 |
88067946 |
stop gained |
C/G;T
|
snv
|
2.4E-05;
1.2E-05
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs886041114
|
1.000 |
0.120 |
4 |
88046642 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Polycystic Kidney, Autosomal Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |