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: rs1031583860
rs1031583860
3 0.882 0.080 11 58709815 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2060793
rs2060793
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3783521
rs3783521
8 0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs3917225
rs3917225
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs6013897
rs6013897
7 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs763538721
rs763538721
8 0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs78929565
rs78929565
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1032006770
rs1032006770
3 0.882 0.080 7 55160171 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10951937
rs10951937
3 0.882 0.080 7 47992027 intron variant A/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs12769288
rs12769288
3 0.882 0.080 10 129488086 intron variant C/T snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs180414
rs180414
3 0.882 0.080 12 46775115 synonymous variant A/G snv 3.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs2708896
rs2708896
3 0.882 0.080 7 47955186 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs33917957
rs33917957
MET
10 0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750447
rs63750447
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs768827923
rs768827923
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs78201625
rs78201625
4 0.851 0.080 10 113577182 missense variant C/T snv 2.4E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2018 2018
dbSNP: rs11077
rs11077
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs11214077
rs11214077
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs34677591
rs34677591
12 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017