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: rs28897756
rs28897756
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 1.000 41 1997 2017
dbSNP: rs17879961
rs17879961
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.700 1.000 32 2001 2016
dbSNP: rs80359013
rs80359013
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 31 2002 2018
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 30 1990 2017
dbSNP: rs28897759
rs28897759
5 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 27 2000 2016
dbSNP: rs121434629
rs121434629
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 26 2004 2018
dbSNP: rs28897743
rs28897743
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 26 1997 2018
dbSNP: rs80356959
rs80356959
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 24 1996 2017
dbSNP: rs63750217
rs63750217
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 23 1996 2017
dbSNP: rs80357914
rs80357914
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 23 1995 2017
dbSNP: rs121909229
rs121909229
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 21 1998 2017
dbSNP: rs587779075
rs587779075
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 21 2001 2016
dbSNP: rs80356860
rs80356860
4 0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05 0.700 1.000 21 2000 2016
dbSNP: rs80357662
rs80357662
3 0.925 0.200 17 43093975 frameshift variant T/- delins 0.700 1.000 21 1996 2016
dbSNP: rs80359306
rs80359306
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 21 1996 2017
dbSNP: rs80338682
rs80338682
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 20 2002 2019
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: rs121912664
rs121912664
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 19 2001 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: 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