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: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.710 1.000 1 2003 2003
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.710 1.000 1 2007 2007
dbSNP: rs587782604
rs587782604
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 16 2003 2016
dbSNP: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 12 2005 2015
dbSNP: rs80338842
rs80338842
8 0.790 0.280 11 112086910 start lost G/A;C snv 0.700 1.000 11 2001 2012
dbSNP: rs587782703
rs587782703
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 1.000 10 2006 2013
dbSNP: rs74315366
rs74315366
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 10 2001 2014
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs876659329
rs876659329
2 1.000 0.040 1 17044767 missense variant A/G;T snv 0.700 1.000 10 2001 2014
dbSNP: rs104894304
rs104894304
6 0.827 0.240 11 112094831 missense variant A/G snv 0.700 1.000 9 2001 2016
dbSNP: rs1131691049
rs1131691049
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013
dbSNP: rs80338843
rs80338843
6 0.827 0.240 11 112087916 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2000 2015
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 8 2006 2012
dbSNP: rs104894306
rs104894306
4 0.882 0.200 11 112087868 stop gained C/T snv 0.700 1.000 7 2001 2012
dbSNP: rs104894307
rs104894307
5 0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 0.700 1.000 7 2001 2012
dbSNP: rs267607032
rs267607032
5 0.882 0.080 1 17028605 missense variant C/A snv 1.2E-05 2.8E-05 0.700 1.000 7 2006 2015
dbSNP: rs876658367
rs876658367
4 0.882 0.080 1 17024028 missense variant C/T snv 0.700 1.000 7 2001 2007
dbSNP: rs104894308
rs104894308
4 0.882 0.200 11 112087933 stop gained G/A snv 0.700 1.000 6 2002 2010
dbSNP: rs1306475361
rs1306475361
4 0.851 0.240 11 112088866 splice acceptor variant G/T snv 4.0E-06 0.700 1.000 6 2002 2010
dbSNP: rs201743423
rs201743423
MAX
1 1.000 0.040 14 65102315 missense variant C/A snv 8.9E-05 7.0E-05 0.700 1.000 6 2011 2015
dbSNP: rs397516833
rs397516833
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
dbSNP: rs398122805
rs398122805
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 6 2006 2014
dbSNP: rs786202100
rs786202100
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs104894302
rs104894302
5 0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06 0.700 1.000 5 2000 2012
dbSNP: rs1060503757
rs1060503757
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013