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: 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: 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: 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: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.810 1.000 31 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
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.800 1.000 28 1994 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: rs104893825
rs104893825
VHL
2 1.000 0.120 3 10149819 missense variant G/T snv 0.800 1.000 24 1993 2017
dbSNP: rs1352275281
rs1352275281
VHL
1 1.000 0.120 3 10149815 missense variant G/C;T snv 8.0E-06 0.800 1.000 24 1993 2017
dbSNP: rs1553619461
rs1553619461
VHL
1 1.000 0.120 3 10142160 missense variant A/C snv 0.800 1.000 24 1993 2017
dbSNP: rs193922609
rs193922609
VHL
2 1.000 0.120 3 10142167 missense variant G/A;C snv 0.800 1.000 24 1993 2017
dbSNP: rs367545984
rs367545984
VHL
1 1.000 0.120 3 10149879 stop gained G/A;T snv 1.6E-05 0.700 1.000 24 1993 2017
dbSNP: rs373068386
rs373068386
VHL
1 1.000 0.120 3 10142001 stop gained G/A;T snv 6.3E-05; 1.0E-05 0.700 1.000 24 1993 2017
dbSNP: rs771727849
rs771727849
VHL
1 1.000 0.120 3 10146608 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 24 1993 2017