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: rs104886028
rs104886028
1 1.000 0.080 12 25227308 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121913309
rs121913309
RET
1 1.000 0.080 10 43120164 inframe deletion TGTTTATGAAGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs121913312
rs121913312
RET
1 1.000 0.080 10 43114494 inframe deletion GAGCTG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913313
rs121913313
RET
1 1.000 0.080 10 43113626 inframe deletion TTCCCTGAGGAGGAGAAGTGCTTCTGC/- delins 0.700 1.000 1 2014 2014
dbSNP: rs145633958
rs145633958
RET
1 1.000 0.080 10 43100551 missense variant C/A;T snv 2.7E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs183334241
rs183334241
2 0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs3026785
rs3026785
RET
1 1.000 0.080 10 43130238 3 prime UTR variant T/C snv 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs33927012
rs33927012
1 1.000 0.080 1 17027802 missense variant A/G snv 1.2E-02 9.3E-03 0.010 1.000 1 2005 2005
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs377767414
rs377767414
RET
2 0.925 0.080 10 43118397 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs377767426
rs377767426
RET
2 1.000 0.080 10 43119694 missense variant C/G snv 1.8E-04 1.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs747844360
rs747844360
RET
1 1.000 0.080 10 43112853 missense variant G/A snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs750371239
rs750371239
ATM
1 1.000 0.080 11 108252912 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs769177037
rs769177037
1 1.000 0.080 1 161328467 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs770599902
rs770599902
1 1.000 0.080 1 161362382 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs773631693
rs773631693
RET
1 1.000 0.080 10 43106436 missense variant C/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs777122776
rs777122776
RET
1 1.000 0.080 10 43114515 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs78081605
rs78081605
2 0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
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: rs867966048
rs867966048
2 1.000 0.080 1 161340637 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs9282655
rs9282655
1 1.000 0.080 16 68823545 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs77939446
rs77939446
RET
15 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.740 1.000 5 1995 2009
dbSNP: rs377767429
rs377767429
RET
7 0.790 0.120 10 43120120 missense variant GC/TT mnv 0.720 1.000 4 2004 2017
dbSNP: rs121913306
rs121913306
RET
4 0.851 0.120 10 43120119 missense variant AGC/TTT mnv 0.020 1.000 2 2011 2017
dbSNP: rs146646971
rs146646971
RET
7 0.807 0.120 10 43114598 missense variant G/C;T snv 2.4E-05 0.020 1.000 2 2016 2018