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: 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: rs781609053
rs781609053
EGFR
3 0.925 0.120 7 55200379 missense variant T/C snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs78347871
rs78347871
RET
3 0.882 0.120 10 43121950 missense variant G/A;C;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2004 2004
dbSNP: rs121913306
rs121913306
RET
4 0.851 0.120 10 43120119 missense variant AGC/TTT mnv 0.020 1.000 2 2011 2017
dbSNP: rs146838520
rs146838520
RET
4 0.851 0.120 10 43120129 missense variant C/T snv 4.0E-06 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs1800863
rs1800863
RET
4 0.851 0.160 10 43120185 synonymous variant C/A;G snv 1.6E-05; 0.21 0.010 < 0.001 1 2017 2017
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: rs377767395
rs377767395
RET
4 0.882 0.120 10 43113613 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs143795581
rs143795581
RET
5 0.851 0.120 10 43114596 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2011 2011
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: rs377767442
rs377767442
RET
5 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555166368
rs1555166368
MEN1
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
dbSNP: rs377767429
rs377767429
RET
7 0.790 0.120 10 43120120 missense variant GC/TT mnv 0.720 1.000 4 2004 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
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: 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: rs77503355
rs77503355
RET
8 0.776 0.160 10 43113655 missense variant G/A;C;T snv 0.710 1.000 2 1997 2015
dbSNP: rs77558292
rs77558292
RET
8 0.776 0.160 10 43113621 missense variant T/A;C;G snv 0.020 1.000 2 2005 2009
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: 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
dbSNP: rs77316810
rs77316810
RET
10 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.040 1.000 4 1995 2015
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: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.730 1.000 4 1999 2017