Gene: VHL ×
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: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs267607170
rs267607170
VHL
3 0.882 0.200 3 10149814 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs397516444
rs397516444
VHL
3 0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs5030827
rs5030827
VHL
4 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.010 1.000 1 2006 2006
dbSNP: rs869025630
rs869025630
VHL
2 0.925 0.080 3 10142158 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs869025648
rs869025648
VHL
4 0.851 0.240 3 10146587 synonymous variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs876659313
rs876659313
VHL
2 0.925 0.080 3 10146624 missense variant A/C;G snv 0.010 < 0.001 1 2003 2003