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: rs1553619440
rs1553619440
VHL
1 1.000 0.120 3 10142125 missense variant G/A;T snv 0.800 1.000 32 1993 2017
dbSNP: rs1553620313
rs1553620313
VHL
1 1.000 0.120 3 10149807 missense variant T/C snv 0.800 1.000 29 1993 2017
dbSNP: rs1352275281
rs1352275281
VHL
1 1.000 0.120 3 10149815 missense variant G/C;T snv 8.0E-06 0.800 1.000 24 1993 2017
dbSNP: rs1553619461
rs1553619461
VHL
1 1.000 0.120 3 10142160 missense variant A/C snv 0.800 1.000 24 1993 2017
dbSNP: rs367545984
rs367545984
VHL
1 1.000 0.120 3 10149879 stop gained G/A;T snv 1.6E-05 0.700 1.000 24 1993 2017
dbSNP: rs373068386
rs373068386
VHL
1 1.000 0.120 3 10142001 stop gained G/A;T snv 6.3E-05; 1.0E-05 0.700 1.000 24 1993 2017
dbSNP: rs771727849
rs771727849
VHL
1 1.000 0.120 3 10146608 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 24 1993 2017
dbSNP: rs869025660
rs869025660
VHL
1 1.000 0.120 3 10149793 missense variant C/T snv 0.800 1.000 24 1993 2017
dbSNP: rs1553619956
rs1553619956
VHL
1 1.000 0.120 3 10146555 missense variant C/T snv 0.700 1.000 17 1993 2006
dbSNP: rs727504215
rs727504215
VHL
1 1.000 0.120 3 10146524 stop gained G/A;T snv 4.0E-06 0.800 1.000 9 1995 2017
dbSNP: rs5030817
rs5030817
VHL
1 1.000 0.120 3 10149786 splice acceptor variant G/A;C;T snv 0.700 1.000 8 1994 2007
dbSNP: rs864622646
rs864622646
VHL
1 1.000 0.120 3 10146518 missense variant C/A;G;T snv 0.700 1.000 8 1995 2015
dbSNP: rs377715747
rs377715747
VHL
1 1.000 0.120 3 10149861 missense variant A/G snv 8.0E-06 1.4E-05 0.700 1.000 7 2004 2017
dbSNP: rs5030803
rs5030803
VHL
1 1.000 0.120 3 10142068 missense variant T/A;C;G snv 0.700 1.000 7 2004 2017
dbSNP: rs730882033
rs730882033
VHL
1 1.000 0.120 3 10142074 missense variant T/A;C;G snv 0.700 1.000 7 2004 2017
dbSNP: rs869025659
rs869025659
VHL
1 1.000 0.120 3 10146636 missense variant G/A snv 0.700 1.000 7 2004 2017
dbSNP: rs5030835
rs5030835
VHL
1 1.000 0.120 3 10149848 stop gained C/G snv 0.700 1.000 6 1995 2008
dbSNP: rs1347416980
rs1347416980
VHL
1 1.000 0.120 3 10146568 missense variant A/C;G snv 4.0E-06 0.700 1.000 5 1999 2009
dbSNP: rs397516442
rs397516442
VHL
1 1.000 0.120 3 10146579 frameshift variant T/- delins 0.700 1.000 5 1999 2011
dbSNP: rs869025637
rs869025637
VHL
1 1.000 0.120 3 10146512 splice acceptor variant A/G snv 0.700 1.000 4 2010 2016
dbSNP: rs1553619963
rs1553619963
VHL
1 1.000 0.120 3 10146565 missense variant A/G snv 0.700 1.000 3 2000 2009
dbSNP: rs281860296
rs281860296
VHL
1 1.000 0.120 3 10149909 stop gained A/G;T snv 0.700 1.000 3 2007 2014
dbSNP: rs397516445
rs397516445
VHL
1 1.000 0.120 3 10149820 missense variant T/A;C;G snv 0.700 1.000 3 1996 2007
dbSNP: rs727503744
rs727503744
VHL
1 1.000 0.120 3 10141770 5 prime UTR variant CGCACGCAGCTCCGCCCCGCG/- delins 0.700 1.000 3 2002 2012
dbSNP: rs1553620305
rs1553620305
VHL
1 1.000 0.120 3 10149797 frameshift variant GAA/C delins 0.700 1.000 2 2007 2010