rs386833941
|
1.000 |
0.080 |
19 |
35826505 |
stop lost |
GGGCTCTTACACCAGA/-
|
delins
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1430464721
|
1.000 |
0.080 |
19 |
35826621 |
frameshift variant |
C/-
|
del
|
4.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2008 |
2011 |
rs1555758163
|
1.000 |
0.080 |
19 |
35826627 |
frameshift variant |
A/-
|
del
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2008 |
2011 |
rs386833940
|
1.000 |
0.080 |
19 |
35826647 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1555758856
|
1.000 |
0.080 |
19 |
35830843 |
splice donor variant |
C/T
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs750714387
|
1.000 |
0.080 |
19 |
35830883 |
frameshift variant |
-/G
|
delins
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2001 |
2011 |
rs756436580
|
1.000 |
0.080 |
19 |
35830889 |
stop gained |
-/T
|
delins
|
2.0E-05;
5.2E-05
|
4.2E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2001 |
2011 |
rs767887213
|
1.000 |
0.080 |
19 |
35830889 |
stop gained |
G/A;T
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs115489112
|
0.925 |
0.080 |
19 |
35830918 |
missense variant |
G/A
|
snv
|
4.3E-04
|
1.6E-03
|
Kidney Failure, Chronic
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs115489112
|
0.925 |
0.080 |
19 |
35830918 |
missense variant |
G/A
|
snv
|
4.3E-04
|
1.6E-03
|
Chronic kidney disease stage 5
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs386833939
|
1.000 |
0.080 |
19 |
35830956 |
missense variant |
C/A
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs267606919
|
1.000 |
0.080 |
19 |
35831056 |
stop gained |
G/A
|
snv
|
9.9E-05
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
7 |
1999 |
2012 |
rs267606919
|
1.000 |
0.080 |
19 |
35831056 |
stop gained |
G/A
|
snv
|
9.9E-05
|
|
Nephrotic Syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2002 |
2008 |
rs150855173
|
1.000 |
0.080 |
19 |
35831092 |
stop gained |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
2001 |
2017 |
rs143092783
|
1.000 |
0.080 |
19 |
35831116 |
missense variant |
G/A;T
|
snv
|
1.0E-04;
9.8E-04
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs730880176
|
1.000 |
0.080 |
19 |
35831147 |
splice acceptor variant |
C/T
|
snv
|
4.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs386833938
|
1.000 |
0.080 |
19 |
35831148 |
splice acceptor variant |
T/C
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs386833937
|
1.000 |
0.080 |
19 |
35831325 |
frameshift variant |
-/CC
|
delins
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs137853042
|
1.000 |
0.080 |
19 |
35831358 |
stop gained |
G/A
|
snv
|
1.6E-04
|
2.1E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
1998 |
2010 |
rs2071327
|
1.000 |
0.080 |
19 |
35831368 |
synonymous variant |
C/T
|
snv
|
0.40
|
0.32
|
Focal glomerulosclerosis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs786204729
|
1.000 |
0.080 |
19 |
35831372 |
splice acceptor variant |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2009 |
2013 |
rs758432802
|
1.000 |
0.080 |
19 |
35831502 |
splice acceptor variant |
T/C;G
|
snv
|
8.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs386833935
|
1.000 |
0.080 |
19 |
35831679 |
frameshift variant |
C/-;CC
|
delins
|
|
3.5E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
1999 |
2010 |
rs4806213
|
1.000 |
0.080 |
19 |
35831699 |
missense variant |
T/C
|
snv
|
9.7E-02
|
0.11
|
Focal glomerulosclerosis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1009762900
|
1.000 |
0.080 |
19 |
35831763 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|