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: rs104893825
rs104893825
VHL
2 1.000 0.120 3 10149819 missense variant G/T snv 0.700 1.000 8 1996 2010
dbSNP: rs104893826
rs104893826
VHL
4 0.882 0.200 3 10142038 missense variant G/A;C snv 0.700 1.000 7 1998 2014
dbSNP: rs104893830
rs104893830
VHL
3 0.925 0.160 3 10146561 missense variant G/C;T snv 0.700 1.000 5 1996 2014
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.700 1.000 3 2011 2014
dbSNP: rs1131690954
rs1131690954
VHL
1 3 10146639 splice region variant A/G snv 0.700 1.000 3 2011 2015
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: 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: rs1131690962
rs1131690962
VHL
1 3 10149829 missense variant T/C snv 0.700 1.000 4 2000 2015
dbSNP: rs1131690963
rs1131690963
VHL
1 3 10149904 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1131690964
rs1131690964
VHL
2 1.000 0.120 3 10142124 frameshift variant G/- delins 0.700 1.000 3 1994 1998
dbSNP: rs1131690965
rs1131690965
VHL
1 3 10146511 splice region variant T/G snv 0.700 1.000 1 2010 2010
dbSNP: rs119103277
rs119103277
VHL
3 0.925 0.160 3 10142110 stop gained G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs121913346
rs121913346
VHL
3 0.925 0.240 3 10149796 missense variant T/A;C snv 0.700 1.000 3 1998 2009
dbSNP: rs1553619957
rs1553619957
VHL
1 3 10146560 frameshift variant G/- delins 0.700 0
dbSNP: rs1553619976
rs1553619976
VHL
3 0.925 0.160 3 10146593 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553620312
rs1553620312
VHL
1 3 10149803 inframe insertion -/ATGCCTCCAGGTTGTCCG delins 0.700 1.000 1 2012 2012
dbSNP: rs1553620318
rs1553620318
VHL
1 3 10149810 missense variant C/T snv 0.700 1.000 5 2004 2016
dbSNP: rs193922608
rs193922608
VHL
2 1.000 0.120 3 10142089 missense variant C/A;T snv 4.3E-06; 4.3E-06 0.700 1.000 3 2006 2012
dbSNP: rs193922609
rs193922609
VHL
2 1.000 0.120 3 10142167 missense variant G/A;C snv 0.700 1.000 5 1998 2012
dbSNP: rs193922613
rs193922613
VHL
3 0.925 0.160 3 10149847 missense variant A/G;T snv 0.700 1.000 7 2004 2014
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