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: rs1064796408
rs1064796408
VHL
2 0.925 0.160 3 10142023 frameshift variant GGCCCGTGCTGCGC/- delins 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: 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: rs5030804
rs5030804
VHL
3 0.925 0.160 3 10142080 missense variant A/C;G;T snv 0.700 0
dbSNP: rs794726890
rs794726890
VHL
2 0.925 0.160 3 10142092 missense variant G/C;T snv 0.700 1.000 7 2000 2016
dbSNP: rs864622545
rs864622545
VHL
2 0.925 0.160 3 10142103 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs730882034
rs730882034
VHL
3 0.925 0.160 3 10142104 missense variant C/G;T snv 0.700 1.000 10 1998 2016
dbSNP: rs1553619431
rs1553619431
VHL
2 0.925 0.160 3 10142109 missense variant T/A;C snv 0.700 1.000 10 1995 2016
dbSNP: rs869025622
rs869025622
VHL
3 0.925 0.160 3 10142111 missense variant G/C;T snv 0.700 1.000 5 1995 2011
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs5030808
rs5030808
VHL
3 0.882 0.200 3 10142124 missense variant G/A;C;T snv 4.5E-06 0.700 1.000 4 1996 2007
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.700 1.000 9 1995 2014
dbSNP: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0
dbSNP: rs1559426203
rs1559426203
VHL
2 0.925 0.160 3 10142178 missense variant A/G;T snv 0.700 1.000 10 1995 2016
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.700 0
dbSNP: rs5030810
rs5030810
VHL
2 0.925 0.160 3 10142184 stop gained C/A;T snv 4.6E-06 0.700 0
dbSNP: rs869025636
rs869025636
VHL
2 0.925 0.160 3 10142187 missense variant G/A;C snv 0.700 1.000 9 1994 2016
dbSNP: rs5030830
rs5030830
VHL
3 0.925 0.160 3 10146526 missense variant T/C;G snv 0.700 1.000 1 1998 1998
dbSNP: rs1553619948
rs1553619948
VHL
3 0.882 0.200 3 10146528 missense variant T/C snv 0.700 1.000 4 2005 2013
dbSNP: rs1559428077
rs1559428077
VHL
2 0.925 0.160 3 10146530 missense variant C/G snv 0.700 1.000 3 2009 2013
dbSNP: rs5030832
rs5030832
VHL
2 0.925 0.160 3 10146535 missense variant A/G snv 0.700 1.000 12 1994 2015
dbSNP: rs1559428091
rs1559428091
VHL
2 0.925 0.160 3 10146543 missense variant A/G snv 0.700 1.000 2 2003 2013
dbSNP: rs869025644
rs869025644
VHL
2 0.925 0.160 3 10146543 frameshift variant AC/- delins 0.700 0
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.800 1.000 3 2003 2012