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: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.030 1.000 3 2005 2014
dbSNP: rs28940301
rs28940301
VHL
2 0.925 0.040 3 10149894 missense variant C/G snv 0.020 1.000 2 2013 2014
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs200885420
rs200885420
VHL
1 1.000 0.040 3 10142082 missense variant C/G;T snv 2.2E-05 0.010 1.000 1 2005 2005
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 2005 2005
dbSNP: rs780178275
rs780178275
VHL
7 0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs869025650
rs869025650
VHL
3 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005