rs144193508
|
1.000 |
0.120 |
6 |
51619425 |
stop gained |
G/A
|
snv
|
2.4E-05
|
7.0E-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 |
1 |
2011 |
2011 |
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 |
rs1488844530
|
1.000 |
0.120 |
6 |
51626996 |
splice donor variant |
C/A
|
snv
|
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 |
|
0 |
|
|
rs1057517324
|
1.000 |
0.120 |
6 |
51627006 |
frameshift variant |
C/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs760426769
|
1.000 |
0.120 |
6 |
51627035 |
stop gained |
G/C
|
snv
|
2.8E-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 |
|
0 |
|
|
rs12212034
|
|
|
6 |
51628064 |
intron variant |
C/T
|
snv
|
|
0.32
|
Glomerular Filtration Rate
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs759851475
|
1.000 |
0.120 |
6 |
51632564 |
splice donor variant |
C/T
|
snv
|
3.6E-05
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554167673
|
1.000 |
0.120 |
6 |
51632618 |
stop gained |
C/T
|
snv
|
|
|
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 |
2 |
2002 |
2005 |
rs746471701
|
1.000 |
0.120 |
6 |
51632706 |
stop gained |
G/A
|
snv
|
1.6E-05
|
7.0E-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 |
2 |
2005 |
2010 |
rs1554169567
|
1.000 |
0.120 |
6 |
51638917 |
frameshift variant |
A/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554174796
|
1.000 |
0.120 |
6 |
51648099 |
frameshift variant |
A/-
|
del
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs199839578
|
1.000 |
0.120 |
6 |
51648115 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
7.0E-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 |
4 |
2004 |
2016 |
rs1554174903
|
1.000 |
0.120 |
6 |
51648120 |
splice acceptor variant |
T/C
|
snv
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554176343
|
1.000 |
0.120 |
6 |
51649119 |
frameshift variant |
G/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554176517
|
1.000 |
0.120 |
6 |
51649182 |
frameshift variant |
AT/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554183012
|
1.000 |
0.120 |
6 |
51658976 |
frameshift variant |
GAGT/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs769559267
|
1.000 |
0.120 |
6 |
51659052 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
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 |
|
0 |
|
|
rs1057517047
|
1.000 |
0.120 |
6 |
51659153 |
frameshift variant |
TA/-
|
delins
|
|
|
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 |
2003 |
2003 |
rs765390756
|
1.000 |
0.120 |
6 |
51659171 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
2 |
2010 |
2016 |
rs1554183204
|
1.000 |
0.120 |
6 |
51659232 |
stop gained |
TA/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554183235
|
1.000 |
0.120 |
6 |
51659270 |
frameshift variant |
T/-
|
delins
|
|
|
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 |
2 |
2010 |
2014 |
rs1554183240
|
1.000 |
0.120 |
6 |
51659274 |
frameshift variant |
T/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516652
|
1.000 |
0.120 |
6 |
51659300 |
frameshift variant |
T/-
|
delins
|
|
|
Autosomal Recessive Polycystic Kidney Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs780182068
|
1.000 |
0.120 |
6 |
51659361 |
stop gained |
G/A;T
|
snv
|
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 |
4 |
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 |
|
|