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: rs121912664
rs121912664
31 0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05 0.710 1.000 14 2001 2016
dbSNP: rs28897756
rs28897756
10 0.801 0.393 13 32379913 missense variant G/A,T snp 4.0E-06 0.700 40 1997 2017
dbSNP: rs80359013
rs80359013
3 1.000 0.179 13 32362595 stop gained G/A,C snp 8.0E-06 0.700 29 2002 2016
dbSNP: rs80357783
rs80357783
6 0.923 0.179 17 43124030 frameshift variant C/CG,CCT,CT in-del 4.0E-06 0.700 23 1995 2017
dbSNP: rs587779075
rs587779075
4 0.923 0.143 2 47429830 stop gained C/T snp 0.700 22 2001 2017
dbSNP: rs80357662
rs80357662
3 1.000 0.179 17 43093975 frameshift variant CT/C in-del 0.700 22 1996 2017
dbSNP: rs28904921
rs28904921
12 0.756 0.286 11 108329202 missense variant T/G snp 4.0E-05 6.4E-05 0.700 21 1996 2017
dbSNP: rs80356860
rs80356860
6 0.846 0.179 17 43063909 missense variant C/G,T snp 4.8E-05 1.3E-04; 3.2E-05 0.700 21 2000 2017
dbSNP: rs80357509
rs80357509
4 0.923 0.179 17 43092046 frameshift variant AT/A in-del 4.0E-06; 4.0E-06 0.700 21 1997 2017
dbSNP: rs121909229
rs121909229
20 0.692 0.321 10 87933148 missense variant G/A,C,T snp 0.700 20 1998 2017
dbSNP: rs81002874
rs81002874
3 1.000 0.179 13 32363178 splice acceptor variant G/A,C,T snp 4.0E-06 3.2E-05; 3.2E-05 0.700 20 2002 2017
dbSNP: rs121434629
rs121434629
6 0.878 0.179 7 6005918 missense variant C/A,T snp 1.6E-04; 8.1E-06 2.5E-04 0.700 19 2004 2016
dbSNP: rs386833395
rs386833395
5 0.923 0.179 17 43124028 frameshift variant ACT/A in-del 0.700 19 1995 2017
dbSNP: rs398123481
rs398123481
VHL
3 0.923 0.071 3 10142103 missense variant C/G,T snp 0.700 19 1994 2017
dbSNP: rs41293511
rs41293511
3 1.000 0.179 13 32363369 missense variant G/C snp 0.700 19 2001 2015
dbSNP: rs80357446
rs80357446
3 1.000 0.179 17 43115729 missense variant C/A,T snp 0.700 19 2001 2017
dbSNP: rs28897743
rs28897743
7 0.821 0.250 13 32346896 missense variant G/A,C,T snp 4.0E-06 0.700 18 1997 2016
dbSNP: rs63751194
rs63751194
4 0.923 0.143 3 37017508 stop gained C/A,T snp 4.0E-06 0.700 18 2002 2016
dbSNP: rs80356959
rs80356959
7 0.821 0.179 17 43045761 missense variant A/C,G snp 0.700 18 1997 2017
dbSNP: rs104894097
rs104894097
7 0.821 0.179 9 21974757 missense variant C/G,T snp 1.7E-05; 1.3E-05 0.700 17 1996 2017
dbSNP: rs529008617
rs529008617
4 0.878 0.143 1 45331529 missense variant G/A snp 7.2E-05 6.4E-05 0.700 17 2006 2017
dbSNP: rs587776650
rs587776650
NBN
5 0.923 0.107 8 89971214 frameshift variant ATTTGT/A in-del 0.700 17 2000 2017
dbSNP: rs79658334
rs79658334
RET
19 0.685 0.321 10 43119548 missense variant G/A,C,T snp 1.2E-04; 4.3E-06 2.2E-04 0.700 17 1995 2017
dbSNP: rs80338844
rs80338844
14 0.734 0.214 11 112088939 missense variant C/T snp 2.0E-05 3.2E-05 0.700 17 2000 2015
dbSNP: rs80356898
rs80356898
8 0.801 0.179 17 43093844 stop gained G/A,C snp 2.8E-05; 4.0E-06 0.700 17 1995 2017