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 |
34 |
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 |
32 |
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 |
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 |
13 |
1994 |
2013 |
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 |
7 |
2004 |
2017 |
rs1064794272
|
0.807 |
0.240 |
3 |
10146566 |
missense variant |
C/A
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.720 |
1.000 |
17 |
1993 |
2011 |
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 |
16 |
1995 |
2017 |
rs5030820
|
0.827 |
0.280 |
3 |
10149822 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
28 |
1994 |
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 |
25 |
1994 |
2017 |
rs5030826
|
0.827 |
0.200 |
3 |
10142041 |
stop gained |
C/A;G;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
14 |
1994 |
2017 |
rs869025667
|
0.827 |
0.200 |
3 |
10149916 |
missense variant |
T/C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
0 |
2014 |
2014 |
rs5030807
|
0.851 |
0.320 |
3 |
10142113 |
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 |
7 |
2004 |
2017 |
rs397516440
|
0.851 |
0.280 |
3 |
10142166 |
missense variant |
C/G;T
|
snv
|
4.5E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2002 |
2013 |
rs5030823
|
0.851 |
0.280 |
3 |
10149871 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1996 |
2001 |
rs869025648
|
0.851 |
0.240 |
3 |
10146587 |
synonymous variant |
A/G
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
0 |
2019 |
2019 |
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 |
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 |
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 |
24 |
1993 |
2017 |
rs5030818
|
0.882 |
0.280 |
3 |
10149804 |
stop gained |
C/G;T
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
18 |
1994 |
2014 |
rs5030827
|
0.882 |
0.200 |
3 |
10142097 |
missense variant |
G/A;C;T
|
snv
|
4.4E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
16 |
1995 |
2017 |
rs869025650
|
0.882 |
0.160 |
3 |
10146603 |
stop gained |
G/A;C;T
|
snv
|
4.0E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
15 |
1998 |
2014 |
rs5030808
|
0.882 |
0.200 |
3 |
10142124 |
missense variant |
G/A;C;T
|
snv
|
4.5E-06
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
11 |
1996 |
2017 |
rs104893826
|
0.882 |
0.200 |
3 |
10142038 |
missense variant |
G/A;C
|
snv
|
|
|
Von Hippel-Lindau Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
1998 |
2014 |