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: rs75996173
rs75996173
RET
16 0.734 0.214 10 43114501 missense variant G/A,C,T snp 4.0E-06; 4.0E-06 0.840 1.000 11 1988 2014
dbSNP: rs75076352
rs75076352
RET
15 0.734 0.214 10 43114500 missense variant T/A,C,G snp 1.2E-05 0.820 0.500 13 1988 2008
dbSNP: rs80338844
rs80338844
14 0.734 0.214 11 112088939 missense variant C/T snp 2.0E-05 3.2E-05 0.800 13 2000 2017
dbSNP: rs138996609
rs138996609
6 0.878 0.071 1 17022685 missense variant G/A snp 8.0E-06 0.800 11 2003 2017
dbSNP: rs772551056
rs772551056
6 0.878 0.071 1 17044824 missense variant C/A,T snp 4.0E-06 0.800 11 2003 2017
dbSNP: rs74315370
rs74315370
6 0.878 0.071 1 17044825 stop gained G/A,C snp 1.6E-05 3.2E-05 0.800 9 2002 2017
dbSNP: rs74315368
rs74315368
6 0.878 0.071 1 17022648 missense variant C/T snp 1.2E-05 0.800 8 2002 2017
dbSNP: rs5030820
rs5030820
VHL
7 0.821 0.214 3 10149822 missense variant C/G,T snp 8.0E-06 0.800 6 1994 2002
dbSNP: rs77709286
rs77709286
RET
10 0.769 0.107 10 43114502 missense variant C/G snp 4.0E-06 0.800 3 1994 2007
dbSNP: rs80338845
rs80338845
11 0.756 0.179 11 112088971 missense variant G/T snp 0.800 3 2000 2012
dbSNP: rs121917755
rs121917755
2 1.000 0.036 1 17028724 missense variant G/A,C snp 8.0E-06 0.800 2 2004 2007
dbSNP: rs74315371
rs74315371
2 1.000 0.036 1 17028721 missense variant C/T snp 0.800 2 2002 2004
dbSNP: rs104893826
rs104893826
VHL
5 0.878 0.143 3 10142038 missense variant G/A,C snp 0.800 1 1998 1998
dbSNP: rs121908827
rs121908827
2 1.000 0.036 2 96254107 missense variant A/G snp 0.800 1 2010 2010
dbSNP: rs121908828
rs121908828
2 1.000 0.036 2 96254106 missense variant C/A,T snp 4.0E-06 0.800 1 2010 2010
dbSNP: rs5030808
rs5030808
VHL
4 0.878 0.107 3 10142124 missense variant G/A,C,T snp 4.5E-06 0.800 1 2002 2002
dbSNP: rs77724903
rs77724903
RET
12 0.734 0.214 10 43118460 missense variant A/G,T snp 4.0E-06; 2.1E-03 2.6E-03 0.730 0.667 3 2010 2015
dbSNP: rs74799832
rs74799832
RET
24 0.685 0.250 10 43121968 missense variant T/C snp 4.0E-06 0.710 1.000 11 1988 1998
dbSNP: rs121908816
rs121908816
3 0.923 0.071 2 96265263 frameshift variant AGACA/A in-del 0.710 1.000 3 2010 2015
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 0.710 1.000 2 2007 2015
dbSNP: rs36119840
rs36119840
6 0.821 0.214 5 37816010 missense variant G/A snp 2.3E-03 1.4E-03 0.710 1.000 1 1997 1997
dbSNP: rs5030824
rs5030824
VHL
9 0.769 0.321 3 10149885 missense variant C/G snp 2.0E-05 3.2E-05 0.710 < 0.001 1 2002 2002
dbSNP: rs587782604
rs587782604
5 0.878 0.071 1 17022684 missense variant C/A,T snp 4.0E-06; 4.0E-06 0.700 13 2003 2017
dbSNP: rs786201095
rs786201095
5 0.878 0.143 1 17028643 missense variant A/C snp 1.2E-05 0.700 13 2005 2017
dbSNP: rs74315366
rs74315366
5 0.878 0.071 1 17033078 stop gained G/A,C snp 8.0E-06 0.700 11 2001 2017