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: rs2075912
rs2075912
RET
2 0.925 0.160 10 43126769 3 prime UTR variant T/C snv 0.79 0.84 0.010 < 0.001 1 2017 2017
dbSNP: rs2565200
rs2565200
RET
2 0.925 0.160 10 43127485 3 prime UTR variant T/A;C snv 0.010 < 0.001 1 2017 2017
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
SDHB
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: rs34682185
rs34682185
RET
4 0.851 0.120 10 43106382 missense variant G/A snv 6.3E-04 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs377767391
rs377767391
RET
5 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs377767395
rs377767395
RET
4 0.882 0.120 10 43113613 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs377767397
rs377767397
RET
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.020 1.000 2 2003 2015
dbSNP: rs377767398
rs377767398
RET
8 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.020 1.000 2 2003 2015
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.730 1.000 4 1999 2017
dbSNP: rs377767406
rs377767406
RET
9 0.776 0.120 10 43114491 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.020 1.000 2 2006 2012
dbSNP: rs377767414
rs377767414
RET
2 0.925 0.080 10 43118397 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs377767415
rs377767415
RET
2 0.925 0.120 10 43118418 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
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: rs377767427
rs377767427
RET
3 0.882 0.120 10 43120114 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs377767429
rs377767429
RET
7 0.790 0.120 10 43120120 missense variant GC/TT mnv 0.720 1.000 4 2004 2017
dbSNP: rs377767442
rs377767442
RET
5 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
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: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.800 1.000 26 1996 2018
dbSNP: rs75030001
rs75030001
RET
7 0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2002 2002
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: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.800 1.000 13 1995 2018
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.760 1.000 7 1997 2019
dbSNP: rs75873440
rs75873440
RET
10 0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 0.070 1.000 7 2008 2017