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 |
rs1131690795
|
1.000 |
0.160 |
11 |
32434769 |
frameshift variant |
C/-
|
delins
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs121907911
|
1.000 |
0.160 |
11 |
32434815 |
stop gained |
G/T
|
snv
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554946500
|
0.851 |
0.280 |
11 |
32434883 |
stop gained |
G/A
|
snv
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554946500
|
0.851 |
0.280 |
11 |
32434883 |
stop gained |
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
|
0.700 |
|
0 |
|
|
rs1554946500
|
0.851 |
0.280 |
11 |
32434883 |
stop gained |
G/A
|
snv
|
|
|
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 |
|
0 |
|
|
rs1554946500
|
0.851 |
0.280 |
11 |
32434883 |
stop gained |
G/A
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554946600
|
0.851 |
0.280 |
11 |
32435027 |
frameshift variant |
C/-
|
delins
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1554946600
|
0.851 |
0.280 |
11 |
32435027 |
frameshift variant |
C/-
|
delins
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554946600
|
0.851 |
0.280 |
11 |
32435027 |
frameshift variant |
C/-
|
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 |
|
0 |
|
|
rs1554946600
|
0.851 |
0.280 |
11 |
32435027 |
frameshift variant |
C/-
|
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 |
|
0 |
|
|
rs1565000973
|
0.851 |
0.280 |
11 |
32434708 |
frameshift variant |
C/-
|
del
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1565000973
|
0.851 |
0.280 |
11 |
32434708 |
frameshift variant |
C/-
|
del
|
|
|
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 |
|
0 |
|
|
rs1565000973
|
0.851 |
0.280 |
11 |
32434708 |
frameshift variant |
C/-
|
del
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1565000973
|
0.851 |
0.280 |
11 |
32434708 |
frameshift variant |
C/-
|
del
|
|
|
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 |
|
0 |
|
|
rs1565001383
|
0.925 |
0.200 |
11 |
32434889 |
stop gained |
C/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
|
0.700 |
|
0 |
|
|
rs1565001383
|
0.925 |
0.200 |
11 |
32434889 |
stop gained |
C/A
|
snv
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs776155094
|
1.000 |
|
11 |
32435210 |
frameshift variant |
C/-
|
del
|
7.6E-06
|
2.8E-05
|
Pre B-cell acute lymphoblastic leukemia
|
|
0.700 |
|
0 |
|
|
rs1049509674
|
0.925 |
0.200 |
11 |
32435341 |
missense variant |
T/C
|
snv
|
|
|
Nephroblastoma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1049509674
|
0.925 |
0.200 |
11 |
32435341 |
missense variant |
T/C
|
snv
|
|
|
Frasier Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1060501256
|
1.000 |
|
11 |
32434813 |
missense variant |
C/T
|
snv
|
|
|
Microcystic stromal tumor
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1238354637
|
1.000 |
0.160 |
11 |
32434718 |
missense variant |
G/A
|
snv
|
4.1E-06
|
|
Fabry Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1327516147
|
|
|
11 |
32435161 |
missense variant |
G/A;C
|
snv
|
8.3E-06
|
7.0E-06
|
Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs1348287926
|
|
|
11 |
32435054 |
missense variant |
C/A
|
snv
|
|
|
Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2011 |
2011 |