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: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.800 0.947 265 2003 2018
dbSNP: rs537209983
rs537209983
4 0.846 0.071 14 36517378 missense variant G/A snp 1.7E-04 2.9E-04 0.720 1.000 2 2009 2015
dbSNP: rs11175834
rs11175834
2 0.923 0.071 12 65598856 intron variant C/T snp 0.14 0.700 1 2017 2017
dbSNP: rs12990503
rs12990503
2 0.923 0.071 2 217429494 intron variant C/G snp 0.65 0.700 1 2017 2017
dbSNP: rs1874564
rs1874564
2 0.923 0.071 4 76936952 intergenic variant G/A snp 0.57 0.700 1 2017 2017
dbSNP: rs4649295
rs4649295
2 0.923 0.071 1 233280792 intron variant T/C snp 0.60 0.700 1 2017 2017
dbSNP: rs4915076
rs4915076
3 0.878 0.071 1 107816883 intron variant T/C snp 9.4E-02 0.700 1 2017 2017
dbSNP: rs6996585
rs6996585
2 0.923 0.071 8 32543285 intron variant A/G snp 0.37 0.700 1 2017 2017
dbSNP: rs72753537
rs72753537
1 1.000 0.071 9 97898464 intergenic variant T/C snp 9.1E-02 0.700 1 2017 2017
dbSNP: rs9858271
rs9858271
2 0.923 0.071 3 59559604 regulatory region variant G/A snp 0.78 0.700 1 2017 2017
dbSNP: rs121913364
rs121913364
25 0.652 0.429 7 140753334 missense variant T/C,G snp 4.0E-06 0.060 1.000 6 2004 2016
dbSNP: rs944289
rs944289
8 0.821 0.071 14 36180040 intergenic variant C/T snp 0.48 0.060 0.667 6 2010 2016
dbSNP: rs121913377
rs121913377
32 0.638 0.393 7 140753335 missense variant CA/AT,TT multinucleotide-polymorphism 0.050 1.000 5 2017 2018
dbSNP: rs1867277
rs1867277
4 0.846 0.071 9 97853632 5 prime UTR variant A/G snp 0.64 0.040 0.750 4 2012 2015
dbSNP: rs965513
rs965513
10 0.784 0.107 9 97793827 intergenic variant A/G,T snp 0.72 0.040 1.000 4 2012 2015
dbSNP: rs121913375
rs121913375
4 0.878 0.214 7 140753339 missense variant G/A,C snp 0.020 1.000 2 2008 2016
dbSNP: rs17879961
rs17879961
33 0.615 0.321 22 28725099 missense variant A/C,G snp 4.1E-03 1.1E-02 0.020 1.000 2 2014 2015
dbSNP: rs1799939
rs1799939
RET
18 0.685 0.250 10 43114671 missense variant G/A,C snp 0.21 0.16 0.020 1.000 2 2005 2016
dbSNP: rs1801516
rs1801516
ATM
15 0.715 0.214 11 108304735 missense variant G/A snp 0.11 0.11 0.020 1.000 2 2009 2014
dbSNP: rs2910164
rs2910164
82 0.525 0.750 5 160485411 mature miRNA variant C/G snp 0.71; 4.1E-06 0.71 0.020 1.000 2 2008 2013
dbSNP: rs3748093
rs3748093
2 0.923 0.107 7 140800651 intron variant T/A snp 1.6E-02 0.020 1.000 2 2013 2016
dbSNP: rs7080536
rs7080536
22 0.685 0.286 10 113588287 missense variant G/A snp 2.2E-02 2.3E-02 0.020 1.000 2 2016 2016
dbSNP: rs782237788
rs782237788
1 1.000 0.071 10 46009499 missense variant snp 4.0E-06 0.020 1.000 2 2007 2012
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 0.020 1.000 2 2011 2012
dbSNP: rs10119760
rs10119760
1 1.000 0.071 9 97862320 intergenic variant G/C,T snp 0.72; 3.2E-05 0.010 1.000 1 2014 2014