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: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.850 1.000 19 1995 2017
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.820 1.000 35 1993 2017
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.810 1.000 33 1994 2017
dbSNP: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.810 1.000 33 1994 2017
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.810 1.000 31 1993 2017
dbSNP: rs587780077
rs587780077
VHL
2 1.000 0.120 3 10146618 missense variant G/A;C;T snv 0.810 1.000 27 1993 2017
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.810 1.000 26 1994 2017
dbSNP: rs104893829
rs104893829
VHL
4 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.810 1.000 25 1993 2017
dbSNP: rs5030804
rs5030804
VHL
3 0.925 0.160 3 10142080 missense variant A/C;G;T snv 0.810 1.000 21 1996 2017
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.810 1.000 14 1994 2013
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: rs119103277
rs119103277
VHL
3 0.925 0.160 3 10142110 stop gained G/A;C snv 0.810 0.875 8 2004 2017
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.810 0.875 8 2004 2017
dbSNP: rs1553619431
rs1553619431
VHL
2 0.925 0.160 3 10142109 missense variant T/A;C snv 0.800 1.000 43 1993 2017
dbSNP: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.800 1.000 40 1993 2017
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.800 1.000 37 1993 2017
dbSNP: rs1553619440
rs1553619440
VHL
1 1.000 0.120 3 10142125 missense variant G/A;T snv 0.800 1.000 32 1993 2017
dbSNP: rs1553619948
rs1553619948
VHL
3 0.882 0.200 3 10146528 missense variant T/C snv 0.800 1.000 32 1993 2017
dbSNP: rs267607170
rs267607170
VHL
3 0.882 0.200 3 10149814 missense variant A/G snv 0.800 1.000 32 1993 2017
dbSNP: rs397516444
rs397516444
VHL
3 0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 0.800 1.000 32 1993 2017
dbSNP: rs869025631
rs869025631
VHL
2 1.000 0.120 3 10142179 missense variant G/A;T snv 0.800 1.000 32 1993 2017
dbSNP: rs869025636
rs869025636
VHL
2 0.925 0.160 3 10142187 missense variant G/A;C snv 0.800 1.000 31 1993 2017
dbSNP: rs104893830
rs104893830
VHL
3 0.925 0.160 3 10146561 missense variant G/C;T snv 0.800 1.000 29 1993 2017
dbSNP: rs1553620313
rs1553620313
VHL
1 1.000 0.120 3 10149807 missense variant T/C snv 0.800 1.000 29 1993 2017
dbSNP: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.800 1.000 28 1993 2017