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: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs751409106
rs751409106
1 1.000 0.080 13 108209596 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs80358683
rs80358683
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
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 2004 2004
dbSNP: rs864622088
rs864622088
2 0.925 0.080 9 95459774 missense variant G/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2004 2005
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2007 2007
dbSNP: rs4987206
rs4987206
4 0.851 0.080 12 916703 missense variant G/C snv 2.4E-03 9.6E-03 0.010 1.000 1 2008 2008
dbSNP: rs768891111
rs768891111
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs144110687
rs144110687
1 1.000 0.080 22 21025856 synonymous variant C/G;T snv 4.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs1466683466
rs1466683466
1 1.000 0.080 11 57348630 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 1.000 1 2009 2009
dbSNP: rs609429
rs609429
1 1.000 0.080 11 108325782 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs758306108
rs758306108
1 1.000 0.080 12 132620574 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs763203190
rs763203190
1 1.000 0.080 17 3903963 synonymous variant G/A snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1566734
rs1566734
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2010 2010
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.020 1.000 2 2006 2011
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2009 2011
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.030 1.000 3 2009 2012
dbSNP: rs782237788
rs782237788
2 1.000 0.080 10 46009499 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs1061758
rs1061758
1 1.000 0.080 9 34652333 intron variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012