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
8 0.784 0.214 3 10149921 missense variant C/T snp 2.1E-04 1.3E-04 0.100 0.900 10 2003 2015
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.040 1.000 4 2006 2012
dbSNP: rs28940301
rs28940301
VHL
2 0.923 0.036 3 10149894 missense variant C/G snp 0.020 1.000 2 2013 2015
dbSNP: rs752907384
rs752907384
5 0.846 0.107 6 43782077 missense variant C/G,T snp 8.0E-06 0.020 1.000 2 2004 2006
dbSNP: rs104893831
rs104893831
VHL
3 0.923 0.036 3 10146549 missense variant G/A,T snp 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs142094773
rs142094773
1 1.000 0.036 19 11378049 missense variant G/A snp 7.7E-03 4.4E-03 0.010 1.000 1 1996 1996
dbSNP: rs200104203
rs200104203
3 0.878 0.071 21 34792580 missense variant G/A,C snp 1.8E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs200885420
rs200885420
VHL
2 0.923 0.214 3 10142082 missense variant C/G,T snp 2.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs201051019
rs201051019
EPO
1 1.000 0.036 7 100722981 missense variant G/A snp 0.010 1.000 1 2007 2007
dbSNP: rs373822092
rs373822092
1 1.000 0.036 6 161973336 missense variant G/A,C snp 8.0E-06 3.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs5030824
rs5030824
VHL
9 0.769 0.321 3 10149885 missense variant C/G snp 2.0E-05 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs62638745
rs62638745
3 0.878 0.071 19 11378051 missense variant T/C snp 6.3E-03 7.1E-03 0.010 1.000 1 1996 1996
dbSNP: rs754190776
rs754190776
2 0.923 0.071 11 5253350 G/A snp 8.0E-06 0.010 1.000 1 1989 1989
dbSNP: rs772889171
rs772889171
3 0.878 0.071 21 34834487 missense variant G/A snp 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828
4 0.846 0.143 12 54293083 missense variant G/A snp 2.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs778678228
rs778678228
1 1.000 0.036 7 100859070 missense variant C/T snp 1.2E-05 3.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs780178275
rs780178275
VHL
4 0.846 0.143 3 10146586 missense variant C/T snp 8.0E-06 0.010 1.000 1 2013 2013