rs730882035
|
0.807 |
0.200 |
3 |
10149805 |
missense variant |
G/A
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.850 |
1.000 |
19 |
1995 |
2017 |
rs28940298
|
0.776 |
0.280 |
3 |
10149921 |
missense variant |
C/T
|
snv
|
2.1E-04
|
1.0E-04
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.820 |
1.000 |
35 |
1993 |
2017 |
rs5030809
|
0.776 |
0.320 |
3 |
10142139 |
missense variant |
T/C
|
snv
|
1.3E-05
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
33 |
1994 |
2017 |
rs730882034
|
0.925 |
0.160 |
3 |
10142104 |
missense variant |
C/G;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
33 |
1994 |
2017 |
rs104893824
|
0.776 |
0.320 |
3 |
10142181 |
missense variant |
T/A;C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
31 |
1993 |
2017 |
rs587780077
|
1.000 |
0.120 |
3 |
10146618 |
missense variant |
G/A;C;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
27 |
1993 |
2017 |
rs5030821
|
0.827 |
0.280 |
3 |
10149823 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
26 |
1994 |
2017 |
rs104893829
|
0.882 |
0.240 |
3 |
10142088 |
missense variant |
C/T
|
snv
|
2.0E-04
|
3.8E-04
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
25 |
1993 |
2017 |
rs5030804
|
0.925 |
0.160 |
3 |
10142080 |
missense variant |
A/C;G;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
21 |
1996 |
2017 |
rs5030824
|
0.776 |
0.320 |
3 |
10149885 |
missense variant |
C/G
|
snv
|
2.0E-05
|
4.2E-05
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
14 |
1994 |
2013 |
rs5030802
|
1.000 |
0.120 |
3 |
10142055 |
stop gained |
G/A;T
|
snv
|
4.4E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
11 |
1998 |
2017 |
rs119103277
|
0.925 |
0.160 |
3 |
10142110 |
stop gained |
G/A;C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
0.875 |
8 |
2004 |
2017 |
rs5030805
|
0.790 |
0.280 |
3 |
10142086 |
missense variant |
G/A;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.810 |
0.875 |
8 |
2004 |
2017 |
rs5030824
|
0.776 |
0.320 |
3 |
10149885 |
missense variant |
C/G
|
snv
|
2.0E-05
|
4.2E-05
|
Pheochromocytoma
|
Neoplasms
|
0.810 |
1.000 |
1 |
2002 |
2002 |
rs1553619431
|
0.925 |
0.160 |
3 |
10142109 |
missense variant |
T/A;C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
43 |
1993 |
2017 |
rs398123481
|
1.000 |
0.120 |
3 |
10142103 |
missense variant |
C/G;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
40 |
1993 |
2017 |
rs397516441
|
0.882 |
0.200 |
3 |
10149790 |
missense variant |
A/G
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
37 |
1993 |
2017 |
rs1553619440
|
1.000 |
0.120 |
3 |
10142125 |
missense variant |
G/A;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1993 |
2017 |
rs1553619948
|
0.882 |
0.200 |
3 |
10146528 |
missense variant |
T/C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1993 |
2017 |
rs267607170
|
0.882 |
0.200 |
3 |
10149814 |
missense variant |
A/G
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1993 |
2017 |
rs397516444
|
0.882 |
0.200 |
3 |
10149808 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1993 |
2017 |
rs869025631
|
1.000 |
0.120 |
3 |
10142179 |
missense variant |
G/A;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
32 |
1993 |
2017 |
rs869025636
|
0.925 |
0.160 |
3 |
10142187 |
missense variant |
G/A;C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
31 |
1993 |
2017 |
rs104893830
|
0.925 |
0.160 |
3 |
10146561 |
missense variant |
G/C;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
29 |
1993 |
2017 |
rs1553620313
|
1.000 |
0.120 |
3 |
10149807 |
missense variant |
T/C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
29 |
1993 |
2017 |