Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893824
VHL
0.776 0.320 3 10142181 missense variant T/A;C snv 8
rs104893825
VHL
1.000 0.120 3 10149819 missense variant G/T snv 2
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv 4
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 4
rs104893830
VHL
0.925 0.160 3 10146561 missense variant G/C;T snv 3
rs1060503552
VHL
0.925 0.160 3 10142073 frameshift variant TT/- del 2
rs1064793878
VHL
1.000 0.120 3 10149874 missense variant T/C snv 1
rs1064794272
VHL
0.807 0.240 3 10146566 missense variant C/A snv 6
rs1064796408
VHL
0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins 2
rs1131690964
VHL
1.000 0.120 3 10142124 frameshift variant G/- delins 2
rs1188254133
VEGFA
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06 4
rs119103277
VHL
0.925 0.160 3 10142110 stop gained G/A;C snv 3
rs121913346
VHL
0.925 0.240 3 10149796 missense variant T/A;C snv 3
rs1267580705
EPAS1
0.925 0.240 2 46360680 missense variant G/A snv 4
rs1271401320
IFNA1
1.000 0.120 9 21440749 missense variant A/G snv 3
rs1347416980
VHL
1.000 0.120 3 10146568 missense variant A/C;G snv 4.0E-06 1
rs1352275281
VHL
1.000 0.120 3 10149815 missense variant G/C;T snv 8.0E-06 1
rs1368606697
SDHC
1.000 0.120 1 161356763 missense variant C/T snv 4.0E-06 1
rs1400537035
SERPINE1
0.882 0.200 7 101131931 missense variant C/A;G;T snv 3
rs143985153
VHL
1.000 0.120 3 10142116 missense variant A/C;G;T snv 1
rs148935214
RET
0.882 0.240 10 43114546 missense variant C/T snv 3.2E-04 3.8E-04 3
rs1553619402
VHL
1.000 0.120 3 10142035 frameshift variant -/G delins 1
rs1553619415
VHL
1.000 0.120 3 10142052 frameshift variant -/G delins 1
rs1553619431
VHL
0.925 0.160 3 10142109 missense variant T/A;C snv 2
rs1553619440
VHL
1.000 0.120 3 10142125 missense variant G/A;T snv 1