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: rs1553620318
rs1553620318
VHL
1 3 10149810 missense variant C/T snv 0.700 1.000 5 2004 2016
dbSNP: rs1131690962
rs1131690962
VHL
1 3 10149829 missense variant T/C snv 0.700 1.000 4 2000 2015
dbSNP: rs5030825
rs5030825
VHL
1 3 10149906 stop gained C/T snv 0.700 1.000 4 1994 2013
dbSNP: rs1131690954
rs1131690954
VHL
1 3 10146639 splice region variant A/G snv 0.700 1.000 3 2011 2015
dbSNP: rs1131690960
rs1131690960
VHL
1 3 10142109 protein altering variant -/GGC delins 0.700 1.000 2 2002 2012
dbSNP: rs1131690961
rs1131690961
VHL
1 3 10146570 missense variant A/C snv 0.700 1.000 2 2010 2015
dbSNP: rs1131690963
rs1131690963
VHL
1 3 10149904 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1131690965
rs1131690965
VHL
1 3 10146511 splice region variant T/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1553620312
rs1553620312
VHL
1 3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins 0.700 1.000 1 2012 2012
dbSNP: rs1131690955
rs1131690955
VHL
1 3 10146591 frameshift variant -/A ins 0.700 0
dbSNP: rs1131690956
rs1131690956
VHL
1 3 10146531 frameshift variant A/- del 0.700 0
dbSNP: rs1131690958
rs1131690958
VHL
1 3 10149865 frameshift variant -/C delins 0.700 0
dbSNP: rs1131690959
rs1131690959
VHL
1 3 10142133 stop gained C/T snv 0.700 0
dbSNP: rs1553619957
rs1553619957
VHL
1 3 10146560 frameshift variant G/- delins 0.700 0
dbSNP: rs730882030
rs730882030
VHL
1 3 10149935 frameshift variant GC/- delins 0.700 0
dbSNP: rs730882037
rs730882037
VHL
1 3 10142026 frameshift variant G/- delins 0.700 0
dbSNP: rs730882039
rs730882039
VHL
1 3 10142066 frameshift variant GG/- del 0.700 0
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.700 1.000 21 1996 2016
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.700 1.000 14 1994 2013
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 6 2003 2014
dbSNP: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.700 1.000 9 1995 2016
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 1.000 12 1994 2017
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 1994 2016
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs397516441
rs397516441
VHL
4 0.882 0.200 3 10149790 missense variant A/G snv 0.700 1.000 13 1998 2014