Gene: VHL ×
Source: CLINVAR ×
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: rs28940298
rs28940298
VHL
4 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.700 1.000 21 1996 2016
dbSNP: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.700 1.000 19 1994 2016
dbSNP: rs5030824
rs5030824
VHL
5 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.700 1.000 14 1994 2013
dbSNP: rs397516441
rs397516441
VHL
3 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 13 1998 2014
dbSNP: rs5030622
rs5030622
VHL
3 0.925 0.160 3 10149809 stop gained C/A;G snv 0.700 1.000 13 1995 2016
dbSNP: rs5030802
rs5030802
VHL
2 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.700 1.000 12 1995 2016
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 12 1994 2017
dbSNP: rs5030821
rs5030821
VHL
3 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 1994 2016
dbSNP: rs869025618
rs869025618
VHL
2 1.000 0.120 3 10142061 missense variant T/C snv 0.700 1.000 11 2002 2015
dbSNP: rs5030822
rs5030822
VHL
3 0.925 0.160 3 10149856 missense variant T/A;C;G snv 0.700 1.000 10 1994 2008
dbSNP: rs5030818
rs5030818
VHL
4 0.882 0.280 3 10149804 stop gained C/G;T snv 0.700 1.000 9 1994 2016
dbSNP: rs5030830
rs5030830
VHL
3 0.925 0.160 3 10146526 missense variant T/C;G snv 0.700 1.000 9 1994 2012
dbSNP: rs5030833
rs5030833
VHL
2 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.700 1.000 9 1994 2010
dbSNP: rs730882035
rs730882035
VHL
3 0.807 0.200 3 10149805 missense variant G/A snv 0.700 1.000 9 1995 2016
dbSNP: rs104893825
rs104893825
VHL
2 1.000 0.120 3 10149819 missense variant G/T snv 0.700 1.000 8 1996 2010
dbSNP: rs765978945
rs765978945
VHL
2 1.000 0.120 3 10142180 missense variant C/G;T snv 4.5E-06 0.700 1.000 8 1995 2015
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 7 1998 2014
dbSNP: rs193922613
rs193922613
VHL
3 0.925 0.160 3 10149847 missense variant A/G;T snv 0.700 1.000 7 2004 2014
dbSNP: rs5030827
rs5030827
VHL
2 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.700 1.000 7 1995 2016
dbSNP: rs5030809
rs5030809
VHL
3 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 6 2003 2014
dbSNP: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.700 1.000 6 1995 2016
dbSNP: rs786202787
rs786202787
VHL
2 1.000 0.120 3 10142085 missense variant A/C;G snv 0.700 1.000 6 1997 2014
dbSNP: rs104893830
rs104893830
VHL
3 0.925 0.160 3 10146561 missense variant G/C;T snv 0.700 1.000 5 1996 2014
dbSNP: rs1553620318
rs1553620318
VHL
1 3 10149810 missense variant C/T snv 0.700 1.000 5 2004 2016
dbSNP: rs193922609
rs193922609
VHL
2 1.000 0.120 3 10142167 missense variant G/A;C snv 0.700 1.000 5 1998 2012