rs1423753702
|
0.807 |
0.280 |
11 |
32396401 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.710 |
1.000 |
2 |
1997 |
2009 |
rs121907900
|
0.763 |
0.200 |
11 |
32392020 |
missense variant |
G/A
|
snv
|
|
|
Denys-Drash Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2017 |
2017 |
rs587776576
|
0.790 |
0.280 |
11 |
32391967 |
splice region variant |
C/T
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
7 |
1992 |
2017 |
rs1057519745
|
1.000 |
0.040 |
11 |
32396363 |
frameshift variant |
-/ACCGTACA
|
ins
|
|
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
6 |
2014 |
2014 |
rs587776576
|
0.790 |
0.280 |
11 |
32391967 |
splice region variant |
C/T
|
snv
|
|
|
Denys-Drash Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
5 |
1992 |
2013 |
rs121907909
|
0.851 |
0.280 |
11 |
32392032 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs121907909
|
0.851 |
0.280 |
11 |
32392032 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
WAGR Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs121907909
|
0.851 |
0.280 |
11 |
32392032 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs121907909
|
0.851 |
0.280 |
11 |
32392032 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Denys-Drash Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs2234584
|
0.882 |
0.240 |
11 |
32428521 |
missense variant |
G/A;T
|
snv
|
3.9E-04;
2.8E-05
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
2004 |
2017 |
rs587776576
|
0.790 |
0.280 |
11 |
32391967 |
splice region variant |
C/T
|
snv
|
|
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
4 |
1992 |
2013 |
rs1423753702
|
0.807 |
0.280 |
11 |
32396401 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
WAGR Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1423753702
|
0.807 |
0.280 |
11 |
32396401 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Denys-Drash Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1423753702
|
0.807 |
0.280 |
11 |
32396401 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1554939839
|
0.851 |
0.280 |
11 |
32396372 |
frameshift variant |
A/-
|
delins
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1554939839
|
0.851 |
0.280 |
11 |
32396372 |
frameshift variant |
A/-
|
delins
|
|
|
Denys-Drash Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1554939839
|
0.851 |
0.280 |
11 |
32396372 |
frameshift variant |
A/-
|
delins
|
|
|
WAGR Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1554939839
|
0.851 |
0.280 |
11 |
32396372 |
frameshift variant |
A/-
|
delins
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs1564969626
|
1.000 |
0.200 |
11 |
32391998 |
missense variant |
T/G
|
snv
|
|
|
Denys-Drash Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs3809060
|
|
|
11 |
32437261 |
intron variant |
G/T
|
snv
|
|
0.49
|
Cardiovascular Diseases
|
Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs3809060
|
|
|
11 |
32437261 |
intron variant |
G/T
|
snv
|
|
0.49
|
Hernia, Inguinal
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs4986811
|
|
|
11 |
32429547 |
intron variant |
T/G
|
snv
|
|
0.31
|
Soluble Interleukin 6 Receptor Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs5030179
|
|
|
11 |
32426709 |
intron variant |
T/C
|
snv
|
|
0.51
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs5030317
|
|
|
11 |
32388791 |
3 prime UTR variant |
C/G
|
snv
|
|
0.45
|
Birth Weight
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs587776576
|
0.790 |
0.280 |
11 |
32391967 |
splice region variant |
C/T
|
snv
|
|
|
NEPHROTIC SYNDROME, TYPE 4
|
|
0.700 |
1.000 |
1 |
1992 |
1992 |