rs139598219
|
1.000 |
0.080 |
19 |
35850407 |
stop gained |
C/A;T
|
snv
|
7.2E-05
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
16 |
1998 |
2016 |
rs386833897
|
1.000 |
0.080 |
19 |
35851540 |
missense variant |
C/G
|
snv
|
8.1E-06
|
7.0E-06
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs386833929
|
1.000 |
0.080 |
19 |
35851373 |
missense variant |
G/C
|
snv
|
|
7.0E-06
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs386833934
|
1.000 |
0.080 |
19 |
35851339 |
missense variant |
G/A;T
|
snv
|
1.2E-05
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs386833945
|
0.882 |
0.080 |
19 |
35850987 |
missense variant |
G/A
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs386833946
|
1.000 |
0.080 |
19 |
35850975 |
missense variant |
A/T
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs386833949
|
1.000 |
0.080 |
19 |
35850969 |
missense variant |
A/T
|
snv
|
8.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs145125791
|
1.000 |
0.080 |
19 |
35850409 |
missense variant |
T/A
|
snv
|
6.0E-03
|
6.0E-03
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
15 |
1998 |
2016 |
rs386833933
|
1.000 |
0.080 |
19 |
35851340 |
missense variant |
C/T
|
snv
|
1.6E-05
|
2.1E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
15 |
1998 |
2016 |
rs386833947
|
1.000 |
0.080 |
19 |
35850970 |
inframe deletion |
GTG/-
|
delins
|
|
1.4E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
7 |
1999 |
2013 |
rs386833943
|
1.000 |
0.080 |
19 |
35851019 |
stop gained |
G/C
|
snv
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
2001 |
2015 |
rs386833873
|
1.000 |
0.080 |
19 |
35851609 |
frameshift variant |
AG/-
|
del
|
1.1E-03
|
8.7E-04
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
5 |
1998 |
2013 |
rs1555763603
|
1.000 |
0.080 |
19 |
35849641 |
protein altering variant |
CCGGGGTG/AA
|
delins
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
1999 |
2010 |
rs386833932
|
1.000 |
0.080 |
19 |
35851346 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
2005 |
2017 |
rs386833882
|
1.000 |
0.080 |
19 |
35851592 |
frameshift variant |
C/-
|
delins
|
8.1E-06
|
2.8E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs386833942
|
1.000 |
0.080 |
19 |
35851090 |
splice acceptor variant |
C/G;T
|
snv
|
4.0E-06
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2008 |
2015 |
rs386833951
|
1.000 |
0.080 |
19 |
35850440 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2001 |
2015 |
rs386833955
|
1.000 |
0.080 |
19 |
35849655 |
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 |
1.000 |
2 |
2008 |
2015 |
rs778217926
|
1.000 |
0.080 |
19 |
35849643 |
frameshift variant |
G/-
|
delins
|
|
4.2E-05
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs386833952
|
1.000 |
0.080 |
19 |
35850438 |
frameshift variant |
C/-
|
del
|
|
7.0E-06
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs447707
|
1.000 |
0.080 |
19 |
35856498 |
intron variant |
A/G
|
snv
|
|
0.20
|
Chronic Kidney Diseases
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs447707
|
1.000 |
0.080 |
19 |
35856498 |
intron variant |
A/G
|
snv
|
|
0.20
|
Kidney Failure, Chronic
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1054950770
|
1.000 |
0.080 |
19 |
35851260 |
splice donor variant |
A/G
|
snv
|
|
7.0E-06
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057516942
|
1.000 |
0.080 |
19 |
35851557 |
frameshift variant |
A/-
|
del
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1057517275
|
1.000 |
0.080 |
19 |
35850377 |
frameshift variant |
C/-
|
delins
|
|
|
Finnish congenital nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|