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: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs118203918
rs118203918
6 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121908332
rs121908332
5 0.882 0.240 8 139618677 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121912679
rs121912679
4 1.000 0.040 2 157761077 missense variant C/T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1297485103
rs1297485103
1 12 122762190 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs138615487
rs138615487
1 22 20994245 missense variant G/A;C snv 2.6E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs150419186
rs150419186
2 1.000 0.160 22 20989659 stop gained C/A;G;T snv 4.0E-06; 1.2E-05; 7.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs187438258
rs187438258
2 17 10525806 missense variant G/A snv 8.6E-04 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs202198533
rs202198533
2 17 10533547 missense variant C/T snv 1.6E-04 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs2435357
rs2435357
RET
8 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs267606920
rs267606920
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs267606956
rs267606956
2 1.000 19 49862424 stop gained C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs587777178
rs587777178
3 0.925 0.080 22 20995865 missense variant C/T snv 4.4E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs765416902
rs765416902
1 22 20994677 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs770992098
rs770992098
NEB
2 1.000 0.080 2 151724954 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs772206552
rs772206552
1 16 30979961 missense variant G/A snv 9.0E-05 7.7E-05 0.010 1.000 1 2019 2019
dbSNP: rs869025573
rs869025573
2 1.000 0.160 1 114716090 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs869320686
rs869320686
5 0.882 22 20990476 missense variant G/A snv 0.010 1.000 1 2019 2019