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: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 17 1994 2014
dbSNP: rs869025650
rs869025650
VHL
3 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 15 1998 2014
dbSNP: rs869025652
rs869025652
VHL
2 0.925 0.160 3 10146608 frameshift variant GC/- del 0.700 1.000 15 1994 2014
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 14 1994 2012
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 13 1994 2015
dbSNP: rs5030832
rs5030832
VHL
2 0.925 0.160 3 10146535 missense variant A/G snv 0.700 1.000 12 1994 2015
dbSNP: rs1553619431
rs1553619431
VHL
2 0.925 0.160 3 10142109 missense variant T/A;C snv 0.700 1.000 10 1995 2016
dbSNP: rs1559426203
rs1559426203
VHL
2 0.925 0.160 3 10142178 missense variant A/G;T snv 0.700 1.000 10 1995 2016
dbSNP: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.700 1.000 10 1998 2016
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 9 1995 2014
dbSNP: rs5030814
rs5030814
VHL
2 0.925 0.160 3 10146638 splice donor variant T/C;G snv 0.700 1.000 9 1996 2014
dbSNP: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.700 1.000 9 1995 2014
dbSNP: rs869025636
rs869025636
VHL
2 0.925 0.160 3 10142187 missense variant G/A;C snv 0.700 1.000 9 1994 2016
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: rs794726890
rs794726890
VHL
2 0.925 0.160 3 10142092 missense variant G/C;T snv 0.700 1.000 7 2000 2016
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 6 2002 2010
dbSNP: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 5 1995 2011
dbSNP: rs1553619948
rs1553619948
VHL
3 0.882 0.200 3 10146528 missense variant T/C snv 0.700 1.000 4 2005 2013
dbSNP: rs5030622
rs5030622
VHL
3 0.925 0.160 3 10149809 stop gained C/A;G snv 0.700 1.000 4 1999 2007
dbSNP: rs5030648
rs5030648
VHL
2 0.925 0.160 3 10142071 inframe deletion TCT/- delins 0.700 1.000 4 2002 2016
dbSNP: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.700 1.000 4 1996 2007
dbSNP: rs5030819
rs5030819
VHL
2 0.925 0.160 3 10149813 stop gained C/G;T snv 0.700 1.000 4 1996 2016
dbSNP: rs5030822
rs5030822
VHL
3 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.700 1.000 4 2007 2016
dbSNP: rs730882020
rs730882020
VHL
2 0.925 0.160 3 10149798 frameshift variant A/-;AA delins 0.700 1.000 4 1976 2004
dbSNP: rs869025657
rs869025657
VHL
2 0.925 0.160 3 10146637 splice donor variant G/A;C snv 0.700 1.000 4 1996 2011