Gene: VHL ×
Source: INFERRED ×
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: rs104893824
rs104893824
VHL
2 0.776 0.320 3 10142181 missense variant T/A;C snv 0.810 1.000 10 1993 2017
dbSNP: rs104893825
rs104893825
VHL
2 1.000 0.120 3 10149819 missense variant G/T snv 0.800 1.000 0 1993 2017
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 8 1998 2014
dbSNP: rs104893829
rs104893829
VHL
2 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.810 1.000 0 1993 2017
dbSNP: rs104893830
rs104893830
VHL
3 0.925 0.160 3 10146561 missense variant G/C;T snv 0.800 1.000 5 1993 2017
dbSNP: rs1060503552
rs1060503552
VHL
2 0.925 0.160 3 10142073 frameshift variant TT/- del 0.700 0
dbSNP: rs1064796408
rs1064796408
VHL
2 0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins 0.700 0
dbSNP: rs1131690964
rs1131690964
VHL
2 1.000 0.120 3 10142124 frameshift variant G/- delins 0.700 0
dbSNP: rs119103277
rs119103277
VHL
3 0.925 0.160 3 10142110 stop gained G/A;C snv 0.810 0.875 0 2004 2017
dbSNP: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.800 1.000 6 1993 2017
dbSNP: rs1347416980
rs1347416980
VHL
1 1.000 0.120 3 10146568 missense variant A/C;G snv 4.0E-06 0.700 1.000 5 1999 2009
dbSNP: rs1352275281
rs1352275281
VHL
1 1.000 0.120 3 10149815 missense variant G/C;T snv 8.0E-06 0.800 1.000 0 1993 2017
dbSNP: rs143985153
rs143985153
VHL
1 1.000 0.120 3 10142116 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1553619402
rs1553619402
VHL
1 1.000 0.120 3 10142035 frameshift variant -/G delins 0.700 0
dbSNP: rs1553619415
rs1553619415
VHL
1 1.000 0.120 3 10142052 frameshift variant -/G delins 0.700 0
dbSNP: rs1553619431
rs1553619431
VHL
2 0.925 0.160 3 10142109 missense variant T/A;C snv 0.800 1.000 22 1993 2017
dbSNP: rs1553619440
rs1553619440
VHL
1 1.000 0.120 3 10142125 missense variant G/A;T snv 0.800 1.000 9 1993 2017
dbSNP: rs1553619461
rs1553619461
VHL
1 1.000 0.120 3 10142160 missense variant A/C snv 0.800 1.000 2 1993 2017
dbSNP: rs1553619923
rs1553619923
VHL
1 1.000 0.120 3 10146488 coding sequence variant -/TAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGA delins 0.700 0
dbSNP: rs1553619948
rs1553619948
VHL
2 0.882 0.200 3 10146528 missense variant T/C snv 0.800 1.000 8 1993 2017
dbSNP: rs1553619952
rs1553619952
VHL
1 1.000 0.120 3 10146550 frameshift variant A/- del 0.700 0
dbSNP: rs1553619963
rs1553619963
VHL
1 1.000 0.120 3 10146565 missense variant A/G snv 0.700 1.000 3 2000 2009
dbSNP: rs1553619976
rs1553619976
VHL
3 0.925 0.160 3 10146593 frameshift variant -/A delins 0.700 0
dbSNP: rs1553620305
rs1553620305
VHL
1 1.000 0.120 3 10149797 frameshift variant GAA/C delins 0.700 1.000 2 2007 2010
dbSNP: rs1553620313
rs1553620313
VHL
1 1.000 0.120 3 10149807 missense variant T/C snv 0.800 1.000 7 1993 2017