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: rs1400537035
rs1400537035
3 0.882 0.200 7 101131931 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs35460768
rs35460768
VHL
2 0.925 0.160 3 10141921 missense variant C/T snv 3.0E-03 2.6E-03 0.700 0
dbSNP: rs104893827
rs104893827
VHL
1 1.000 0.040 3 10142035 missense variant T/A;C snv 0.700 1.000 3 2013 2014
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.800 0
dbSNP: rs869025616
rs869025616
VHL
2 0.925 0.160 3 10142040 missense variant T/C;G snv 0.700 0
dbSNP: rs5030805
rs5030805
VHL
7 0.790 0.280 3 10142086 missense variant G/A;T snv 0.710 < 0.001 1 2008 2008
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: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.800 1.000 3 2013 2014
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.710 1.000 1 2003 2003
dbSNP: rs864321643
rs864321643
VHL
2 0.925 0.160 3 10142140 missense variant A/C;G snv 0.700 0
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: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.800 1.000 3 2013 2014
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: rs1553619948
rs1553619948
VHL
3 0.882 0.200 3 10146528 missense variant T/C snv 0.700 0
dbSNP: rs5030833
rs5030833
VHL
3 0.925 0.160 3 10146580 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs869025648
rs869025648
VHL
4 0.851 0.240 3 10146587 synonymous variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1060503555
rs1060503555
VHL
1 1.000 0.040 3 10146613 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs876659313
rs876659313
VHL
2 0.925 0.080 3 10146624 missense variant A/C;G snv 0.010 < 0.001 1 2003 2003
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 0
dbSNP: rs864321641
rs864321641
VHL
1 1.000 0.040 3 10149802 missense variant A/T snv 0.700 0
dbSNP: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.700 0
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: rs267607170
rs267607170
VHL
3 0.882 0.200 3 10149814 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.800 0
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 0