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: rs1400537035
rs1400537035
SERPINE1
3 0.882 0.200 7 101131931 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
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: rs35460768
rs35460768
VHL
2 0.925 0.160 3 10141921 missense variant C/T snv 3.0E-03 2.6E-03 0.020 0.500 2 2001 2006
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: rs886041345
rs886041345
VHL
1 1.000 0.120 3 10142008 frameshift variant -/AGGCCGGG delins 0.700 0
dbSNP: rs869025615
rs869025615
VHL
2 1.000 0.120 3 10142009 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1064796408
rs1064796408
VHL
2 0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins 0.700 0
dbSNP: rs1553619402
rs1553619402
VHL
1 1.000 0.120 3 10142035 frameshift variant -/G delins 0.700 0
dbSNP: rs869025647
rs869025647
VHL
1 1.000 0.120 3 10142036 frameshift variant GCGC/- del 0.700 0
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: rs730882031
rs730882031
VHL
2 1.000 0.120 3 10142039 frameshift variant C/- del 0.700 1.000 3 1994 2010
dbSNP: rs869025616
rs869025616
VHL
2 0.925 0.160 3 10142040 missense variant T/C;G snv 0.700 0
dbSNP: rs5030826
rs5030826
VHL
5 0.827 0.200 3 10142041 stop gained C/A;G;T snv 0.800 1.000 14 1994 2017
dbSNP: rs869025617
rs869025617
VHL
1 1.000 0.120 3 10142050 stop gained C/A;T snv 0.700 0
dbSNP: rs1553619415
rs1553619415
VHL
1 1.000 0.120 3 10142052 frameshift variant -/G delins 0.700 0
dbSNP: rs5030802
rs5030802
VHL
2 1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 0.810 1.000 11 1998 2017
dbSNP: rs869025618
rs869025618
VHL
2 1.000 0.120 3 10142061 missense variant T/C snv 0.700 0
dbSNP: rs869025619
rs869025619
VHL
1 1.000 0.120 3 10142064 stop gained C/G;T snv 0.700 0
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: rs794729660
rs794729660
VHL
1 1.000 0.120 3 10142068 inframe deletion ATC/- delins 0.700 0
dbSNP: rs869025620
rs869025620
VHL
1 1.000 0.120 3 10142068 frameshift variant T/- del 0.700 0
dbSNP: rs5030648
rs5030648
VHL
2 0.925 0.160 3 10142071 inframe deletion TCT/- delins 0.700 1.000 4 2002 2016
dbSNP: rs1060503552
rs1060503552
VHL
2 0.925 0.160 3 10142073 frameshift variant TT/- del 0.700 0
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: rs1559425925
rs1559425925
VHL
1 1.000 0.120 3 10142079 frameshift variant A/- delins 0.700 0