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
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.800 60 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.789 57 2004 2019
dbSNP: rs920778
rs920778
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.030 1.000 3 2017 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2011 2016
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.020 1.000 2 2013 2018
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2005 2019
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs2228468
rs2228468
6 0.882 0.120 3 42865620 missense variant A/C;T snv 0.43; 8.3E-03 0.020 1.000 2 2013 2018
dbSNP: rs531564
rs531564
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.020 0.500 2 2015 2018
dbSNP: rs738792
rs738792
6 0.827 0.240 22 23779191 missense variant C/T snv 0.84 0.80 0.020 1.000 2 2015 2018
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 2012 2017
dbSNP: rs75873440
rs75873440
RET
10 0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 0.020 1.000 2 2009 2014
dbSNP: rs965513
rs965513
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.020 1.000 2 2014 2019
dbSNP: rs966423
rs966423
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.020 1.000 2 2016 2019
dbSNP: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1016343
rs1016343
8 0.807 0.240 8 127081052 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10399805
rs10399805
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10420252
rs10420252
2 1.000 0.080 19 35648270 upstream gene variant G/A snv 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10491121
rs10491121
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2012 2012