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: 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: 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: rs869025660
rs869025660
VHL
1 1.000 0.120 3 10149793 missense variant C/T snv 0.800 1.000 24 1993 2017
dbSNP: rs5030832
rs5030832
VHL
2 0.925 0.160 3 10146535 missense variant A/G snv 0.800 1.000 21 1994 2017
dbSNP: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.800 1.000 18 1994 2014
dbSNP: rs794726890
rs794726890
VHL
2 0.925 0.160 3 10142092 missense variant G/C;T snv 0.800 1.000 18 2000 2017
dbSNP: rs5030833
rs5030833
VHL
3 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.800 1.000 17 1994 2017
dbSNP: rs5030827
rs5030827
VHL
4 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.800 1.000 16 1995 2017
dbSNP: rs5030826
rs5030826
VHL
5 0.827 0.200 3 10142041 stop gained C/A;G;T snv 0.800 1.000 14 1994 2017
dbSNP: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 11 1996 2017
dbSNP: rs5030822
rs5030822
VHL
3 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.800 1.000 11 2004 2017
dbSNP: rs727504215
rs727504215
VHL
1 1.000 0.120 3 10146524 stop gained G/A;T snv 4.0E-06 0.800 1.000 9 1995 2017
dbSNP: rs5030830
rs5030830
VHL
3 0.925 0.160 3 10146526 missense variant T/C;G snv 0.800 1.000 8 1998 2017
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.800 1.000 7 2004 2017
dbSNP: rs765978945
rs765978945
VHL
2 1.000 0.120 3 10142180 missense variant C/G;T snv 4.5E-06 0.800 1.000 7 2004 2017
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.720 1.000 19 1993 2011
dbSNP: rs5030812
rs5030812
VHL
1 1.000 0.120 3 10146517 missense variant A/C;G snv 0.710 1.000 1 2008 2008
dbSNP: rs869025648
rs869025648
VHL
4 0.851 0.240 3 10146587 synonymous variant A/G snv 0.710 1.000 1 2019 2019
dbSNP: rs869025667
rs869025667
VHL
6 0.827 0.200 3 10149916 missense variant T/C snv 0.710 1.000 1 2014 2014
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