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: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs16969968
rs16969968
34 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2011 2011
dbSNP: rs402710
rs402710
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2011 2011
dbSNP: rs439680
rs439680
3 1.000 0.080 5 109998341 regulatory region variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs8034191
rs8034191
19 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs1695
rs1695
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1778335
rs1778335
1 1.000 0.080 10 22643219 intron variant T/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs397517097
rs397517097
2 0.851 0.080 7 55174777 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs717620
rs717620
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2012 2012
dbSNP: rs7519667
rs7519667
1 1.000 0.080 1 241722005 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 15 2013 2019
dbSNP: rs401681
rs401681
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.020 0.500 2 2013 2014
dbSNP: rs121913444
rs121913444
17 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs36600
rs36600
4 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs74799832
rs74799832
RET
21 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs3787728
rs3787728
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs775800262
rs775800262
1 1.000 0.080 7 55155894 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1045494
rs1045494
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1333049
rs1333049
44 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1535045
rs1535045
12 0.742 0.360 20 46119460 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1899663
rs1899663
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs2279115
rs2279115
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3756668
rs3756668
2 0.925 0.160 5 68300260 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4353229
rs4353229
6 0.807 0.160 10 113729830 3 prime UTR variant T/C snv 0.23 0.010 1.000 1 2016 2016