Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5030826
VHL
0.827 0.200 3 10142041 stop gained C/A;G;T snv 5
rs5030818
VHL
0.882 0.280 3 10149804 stop gained C/G;T snv 4
rs5030823
VHL
0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 4
rs119103277
VHL
0.925 0.160 3 10142110 stop gained G/A;C snv 3
rs5030622
VHL
0.925 0.160 3 10149809 stop gained C/A;G snv 3
rs5030802
VHL
1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 2
rs5030810
VHL
0.925 0.160 3 10142184 stop gained C/A;T snv 4.6E-06 2
rs5030819
VHL
0.925 0.160 3 10149813 stop gained C/G;T snv 2
rs5030829
VHL
1.000 0.120 3 10142127 stop gained G/A;T snv 4.5E-06 2
rs864622109
VHL
1.000 0.120 3 10149878 stop gained C/G;T snv 2
rs869025650
VHL
0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 2
rs1559426115
VHL
1.000 0.120 3 10142141 stop gained C/G snv 1
rs1559428056
VHL
1.000 0.120 3 10146523 stop gained G/A snv 1
rs1559429717
VHL
1.000 0.120 3 10149852 stop gained A/T snv 1
rs281860296
VHL
1.000 0.120 3 10149909 stop gained A/G;T snv 1
rs5030813
VHL
1.000 0.120 3 10146567 stop gained C/T snv 1
rs5030835
VHL
1.000 0.120 3 10149848 stop gained C/G snv 1
rs727504215
VHL
1.000 0.120 3 10146524 stop gained G/A;T snv 4.0E-06 1
rs749704215
VHL
1.000 0.120 3 10146606 stop gained C/G;T snv 4.0E-06 1
rs751232153
VHL
1.000 0.120 3 10142183 stop gained C/G;T snv 1.8E-05 1
rs869025617
VHL
1.000 0.120 3 10142050 stop gained C/A;T snv 1
rs869025619
VHL
1.000 0.120 3 10142064 stop gained C/G;T snv 1
rs869025624
VHL
1.000 0.120 3 10142139 stop gained -/A delins 1
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 10
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6