Source: ALL
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: rs28939086
rs28939086
4 0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs377767395
rs377767395
RET
4 0.882 0.120 10 43113613 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs377767402
rs377767402
RET
4 0.882 0.120 10 43113663 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs55846256
rs55846256
RET
4 0.882 0.120 10 43114493 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2005 2005
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs77939446
rs77939446
RET
15 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs79781594
rs79781594
RET
16 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs111033307
rs111033307
6 0.851 0.240 7 107694473 missense variant T/G snv 1.0E-04 7.7E-05 0.010 1.000 1 2009 2009
dbSNP: rs140117073
rs140117073
1 4 7064176 missense variant C/A;G;T snv 4.0E-06; 5.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs80169463
rs80169463
1 4 3316336 missense variant G/A;C snv 1.2E-03; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs753012199
rs753012199
TPO
2 1.000 0.120 2 1477425 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2653349
rs2653349
5 0.882 0.120 6 55277539 missense variant A/G;T snv 0.84; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4774518
rs4774518
3 0.925 0.120 15 45117274 stop gained C/G;T snv 1.4E-04; 1.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 1.000 1 2016 2016
dbSNP: rs368488511
rs368488511
1 15 45099748 missense variant C/G;T snv 1.9E-04 0.020 1.000 2 2008 2017
dbSNP: rs180671269
rs180671269
2 1.000 0.120 15 45107450 stop gained T/A;C snv 6.8E-04; 4.0E-06 0.010 1.000 1 2017 2017