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: rs81002874
rs81002874
3 0.925 0.200 13 32363178 splice acceptor variant G/A;C;T snv 4.0E-06 0.700 1.000 20 2002 2017
dbSNP: rs104894097
rs104894097
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 19 1995 2015
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 19 1990 2017
dbSNP: rs398123481
rs398123481
VHL
2 1.000 0.120 3 10142103 missense variant C/G;T snv 0.700 1.000 19 1994 2016
dbSNP: rs41293465
rs41293465
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 19 1996 2017
dbSNP: rs587779852
rs587779852
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.700 1.000 19 1998 2018
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.700 1.000 19 1995 2016
dbSNP: rs80357389
rs80357389
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2003 2018
dbSNP: rs80357446
rs80357446
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 19 2001 2017
dbSNP: rs80359507
rs80359507
4 0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05 0.700 1.000 19 1997 2016
dbSNP: rs180177132
rs180177132
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 1.000 18 2007 2017
dbSNP: rs28929483
rs28929483
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.700 1.000 18 1993 2017
dbSNP: rs529008617
rs529008617
7 0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 0.700 1.000 18 2005 2017
dbSNP: rs55863639
rs55863639
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 18 1989 2015
dbSNP: rs63750617
rs63750617
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 18 2004 2017
dbSNP: rs63751194
rs63751194
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 18 2002 2017
dbSNP: rs80338844
rs80338844
10 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 18 2000 2015
dbSNP: rs80356898
rs80356898
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 1.000 18 1995 2018
dbSNP: rs80357970
rs80357970
4 0.882 0.200 17 43093056 frameshift variant G/- del 4.0E-06 1.4E-05 0.700 1.000 18 1995 2014
dbSNP: rs142763740
rs142763740
2 1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04 0.700 1.000 17 1999 2018
dbSNP: rs41293513
rs41293513
4 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 17 2004 2018
dbSNP: rs80357123
rs80357123
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 17 1997 2017
dbSNP: rs80358721
rs80358721
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 1.000 17 2007 2018
dbSNP: rs81002836
rs81002836
5 0.851 0.200 13 32362521 splice acceptor variant A/G;T snv 0.700 1.000 17 1999 2016
dbSNP: rs104894095
rs104894095
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.700 1.000 16 1995 2010