Gene: VHL ×
Source: INFERRED ×
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: rs1559426203
rs1559426203
VHL
2 0.925 0.160 3 10142178 missense variant A/G;T snv 0.700 1.000 17 1994 2017
dbSNP: rs869025650
rs869025650
VHL
2 0.882 0.160 3 10146603 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 15 1998 2014
dbSNP: rs869025652
rs869025652
VHL
2 0.925 0.160 3 10146608 frameshift variant GC/- del 0.700 1.000 15 1994 2014
dbSNP: rs869025655
rs869025655
VHL
3 0.925 0.160 3 10146625 missense variant T/C;G snv 0.700 1.000 12 1999 2018
dbSNP: rs5030814
rs5030814
VHL
2 0.925 0.160 3 10146638 splice donor variant T/C;G snv 0.700 1.000 10 1996 2014
dbSNP: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 10 1995 2016
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 8 1998 2014
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: 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: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 1.000 4 2002 2013
dbSNP: rs5030622
rs5030622
VHL
3 0.925 0.160 3 10149809 stop gained C/A;G snv 0.700 1.000 4 1999 2007
dbSNP: rs5030648
rs5030648
VHL
2 0.925 0.160 3 10142071 inframe deletion TCT/- delins 0.700 1.000 4 2002 2016
dbSNP: rs5030819
rs5030819
VHL
2 0.925 0.160 3 10149813 stop gained C/G;T snv 0.700 1.000 4 1996 2016
dbSNP: rs730882020
rs730882020
VHL
2 0.925 0.160 3 10149798 frameshift variant A/-;AA delins 0.700 1.000 4 1976 2004
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: rs869025657
rs869025657
VHL
2 0.925 0.160 3 10146637 splice donor variant G/A;C snv 0.700 1.000 4 1996 2011
dbSNP: rs1553619963
rs1553619963
VHL
1 1.000 0.120 3 10146565 missense variant A/G snv 0.700 1.000 3 2000 2009
dbSNP: rs1559428077
rs1559428077
VHL
2 0.925 0.160 3 10146530 missense variant C/G snv 0.700 1.000 3 2009 2013
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: rs5030823
rs5030823
VHL
4 0.851 0.280 3 10149871 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 1996 2001
dbSNP: rs727503744
rs727503744
VHL
1 1.000 0.120 3 10141770 5 prime UTR variant CGCACGCAGCTCCGCCCCGCG/- delins 0.700 1.000 3 2002 2012