Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
rs869025616
VHL
0.925 0.160 3 10142040 missense variant T/C;G snv 1
rs5030805
VHL
0.790 0.280 3 10142086 missense variant G/A;T snv 1
rs5030827
VHL
0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 2
rs5030808
VHL
0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 3
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 3
rs864321643
VHL
0.925 0.160 3 10142140 missense variant A/C;G snv 2
rs397516440
VHL
0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 4
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv 2
rs1553619948
VHL
0.882 0.200 3 10146528 missense variant T/C snv 2
rs5030833
VHL
0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 2
rs869025648
VHL
0.851 0.240 3 10146587 synonymous variant A/G snv 2
rs397516441
VHL
0.882 0.200 3 10149790 missense variant A/G snv 3
rs864321641
VHL
1.000 0.040 3 10149802 missense variant A/T snv 1
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 3
rs397516444
VHL
0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 1
rs267607170
VHL
0.882 0.200 3 10149814 missense variant A/G snv 1
rs5030820
VHL
0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 6
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 3
rs864321642
VHL
0.925 0.160 3 10149832 missense variant T/A;C snv 2
rs5030823
VHL
0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 4
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 5
rs864321640
VHL
1.000 0.040 3 10149908 frameshift variant -/A delins 1
rs121908164
KIF1B ; LOC105376725
1.000 0.040 1 10365476 missense variant G/A snv 4.0E-06 7.0E-06 2
rs104894307
SDHD ; TIMM8B
0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 5