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: rs1057520011
rs1057520011
TTK
1 1.000 0.120 6 80038006 missense variant G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520013
rs1057520013
1 1.000 0.120 11 8436118 missense variant A/C snv 0.700 1.000 1 2010 2010
dbSNP: rs756231248
rs756231248
1 1.000 0.120 17 28735342 missense variant G/C snv 0.700 1.000 1 2010 2010
dbSNP: rs786202134
rs786202134
2 1.000 0.120 19 1220490 missense variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1064794292
rs1064794292
3 0.882 0.200 9 21974760 missense variant C/T snv 0.700 0
dbSNP: rs121913385
rs121913385
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 0
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.030 1.000 3 2007 2016
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 2014 2016
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1399364791
rs1399364791
3 0.882 0.240 12 55967046 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs169068
rs169068
12 0.742 0.280 16 1079872 missense variant C/T snv 0.54 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2005 2005
dbSNP: rs200081710
rs200081710
3 1.000 0.120 4 121154648 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2066827
rs2066827
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2011 2011
dbSNP: rs4988483
rs4988483
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs61734659
rs61734659
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs748405415
rs748405415
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764664272
rs764664272
2 1.000 0.120 16 55484060 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2014 2014