Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs367545984
rs367545984
VHL
1 1.000 0.120 3 10149879 stop gained G/A;T snv 1.6E-05 0.700 1.000 24 1993 2017
dbSNP: rs373068386
rs373068386
VHL
1 1.000 0.120 3 10142001 stop gained G/A;T snv 6.3E-05; 1.0E-05 0.700 1.000 24 1993 2017
dbSNP: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.800 1.000 18 1994 2014
dbSNP: rs869025650
rs869025650
VHL
3 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 15 1998 2014
dbSNP: rs5030826
rs5030826
VHL
5 0.827 0.200 3 10142041 stop gained C/A;G;T snv 0.800 1.000 14 1994 2017
dbSNP: rs5030802
rs5030802
VHL
2 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.810 1.000 11 1998 2017
dbSNP: rs727504215
rs727504215
VHL
1 1.000 0.120 3 10146524 stop gained G/A;T snv 4.0E-06 0.800 1.000 9 1995 2017
dbSNP: rs119103277
rs119103277
VHL
3 0.925 0.160 3 10142110 stop gained G/A;C snv 0.810 0.875 8 2004 2017
dbSNP: rs5030835
rs5030835
VHL
1 1.000 0.120 3 10149848 stop gained C/G snv 0.700 1.000 6 1995 2008
dbSNP: rs5030622
rs5030622
VHL
3 0.925 0.160 3 10149809 stop gained C/A;G snv 0.700 1.000 4 1999 2007
dbSNP: rs5030819
rs5030819
VHL
2 0.925 0.160 3 10149813 stop gained C/G;T snv 0.700 1.000 4 1996 2016
dbSNP: rs281860296
rs281860296
VHL
1 1.000 0.120 3 10149909 stop gained A/G;T snv 0.700 1.000 3 2007 2014
dbSNP: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 1996 2001
dbSNP: rs751232153
rs751232153
VHL
1 1.000 0.120 3 10142183 stop gained C/G;T snv 1.8E-05 0.700 1.000 1 1995 1995
dbSNP: rs1559426115
rs1559426115
VHL
1 1.000 0.120 3 10142141 stop gained C/G snv 0.700 0
dbSNP: rs1559428056
rs1559428056
VHL
1 1.000 0.120 3 10146523 stop gained G/A snv 0.700 0
dbSNP: rs1559429717
rs1559429717
VHL
1 1.000 0.120 3 10149852 stop gained A/T snv 0.700 0
dbSNP: rs5030810
rs5030810
VHL
2 0.925 0.160 3 10142184 stop gained C/A;T snv 4.6E-06 0.700 0
dbSNP: rs5030813
rs5030813
VHL
1 1.000 0.120 3 10146567 stop gained C/T snv 0.700 0
dbSNP: rs5030829
rs5030829
VHL
2 1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs749704215
rs749704215
VHL
1 1.000 0.120 3 10146606 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs864622109
rs864622109
VHL
2 1.000 0.120 3 10149878 stop gained C/G;T snv 0.700 0
dbSNP: rs869025617
rs869025617
VHL
1 1.000 0.120 3 10142050 stop gained C/A;T snv 0.700 0
dbSNP: rs869025619
rs869025619
VHL
1 1.000 0.120 3 10142064 stop gained C/G;T snv 0.700 0
dbSNP: rs869025624
rs869025624
VHL
1 1.000 0.120 3 10142139 stop gained -/A delins 0.700 0