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: rs137854539
rs137854539
28 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs78014899
rs78014899
RET
12 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs767363250
rs767363250
5 0.827 0.280 3 122283992 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1042636
rs1042636
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs201858689
rs201858689
3 0.882 0.120 3 122284257 missense variant G/T snv 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.060 1.000 6 1998 2015
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.050 1.000 5 1998 2015
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2016 2016
dbSNP: rs6254
rs6254
PTH
2 0.925 0.080 11 13492716 intron variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2016 2016
dbSNP: rs61734277
rs61734277
5 0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs104893689
rs104893689
10 0.790 0.200 3 122261589 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs193922442
rs193922442
5 0.827 0.120 3 122261589 frameshift variant G/- del 0.010 1.000 1 2019 2019