Gene: VHL ×
Source: INFERRED ×
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: rs5030809
rs5030809
VHL
3 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.810 1.000 25 1994 2017
dbSNP: rs5030824
rs5030824
VHL
5 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.810 1.000 13 1994 2013
dbSNP: rs28940298
rs28940298
VHL
4 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.820 1.000 11 1993 2017
dbSNP: rs104893824
rs104893824
VHL
2 0.776 0.320 3 10142181 missense variant T/A;C snv 0.810 1.000 10 1993 2017
dbSNP: rs5030805
rs5030805
VHL
1 0.790 0.280 3 10142086 missense variant G/A;T snv 0.810 0.875 0 2004 2017
dbSNP: rs730882035
rs730882035
VHL
3 0.807 0.200 3 10149805 missense variant G/A snv 0.850 1.000 9 1995 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 21 1994 2017
dbSNP: rs5030821
rs5030821
VHL
3 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.810 1.000 18 1994 2017
dbSNP: rs5030826
rs5030826
VHL
5 0.827 0.200 3 10142041 stop gained C/A;G;T snv 0.800 1.000 7 1994 2017
dbSNP: rs869025667
rs869025667
VHL
1 0.827 0.200 3 10149916 missense variant T/C snv 0.710 1.000 0 2014 2014
dbSNP: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 1.000 4 2002 2013
dbSNP: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 1996 2001
dbSNP: rs5030807
rs5030807
VHL
4 0.851 0.320 3 10142113 missense variant T/A;C snv 0.800 1.000 0 2004 2017
dbSNP: rs869025648
rs869025648
VHL
2 0.851 0.240 3 10146587 synonymous variant A/G snv 0.710 1.000 0 2019 2019
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: rs869025650
rs869025650
VHL
2 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 15 1998 2014
dbSNP: rs397516441
rs397516441
VHL
3 0.882 0.200 3 10149790 missense variant A/G snv 0.800 1.000 14 1993 2017
dbSNP: rs397516444
rs397516444
VHL
1 0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 0.800 1.000 12 1993 2017
dbSNP: rs267607170
rs267607170
VHL
1 0.882 0.200 3 10149814 missense variant A/G snv 0.800 1.000 11 1993 2017
dbSNP: rs5030827
rs5030827
VHL
2 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.800 1.000 9 1995 2017
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: rs1553619948
rs1553619948
VHL
2 0.882 0.200 3 10146528 missense variant T/C snv 0.800 1.000 8 1993 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 4 1996 2017
dbSNP: rs104893829
rs104893829
VHL
2 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.810 1.000 0 1993 2017
dbSNP: rs869025621
rs869025621
VHL
2 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.700 0