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: rs377767397
rs377767397
RET
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.030 1.000 3 2001 2018
dbSNP: rs377767398
rs377767398
RET
8 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.030 1.000 3 2001 2018
dbSNP: rs121913306
rs121913306
RET
4 0.851 0.120 10 43120119 missense variant AGC/TTT mnv 0.020 1.000 2 1999 2017
dbSNP: rs377767429
rs377767429
RET
7 0.790 0.120 10 43120120 missense variant GC/TT mnv 0.020 1.000 2 1999 2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2014 2014
dbSNP: rs1206969193
rs1206969193
RET
2 0.925 0.200 10 43112117 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1421685618
rs1421685618
IL31RA
2 0.925 0.200 5 55910565 missense variant G/A snv 2.1E-05 0.010 1.000 1 2015 2015
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: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs202145435
rs202145435
OSMR
2 0.925 0.200 5 38919015 missense variant G/A snv 9.1E-04 3.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs377767395
rs377767395
RET
4 0.882 0.120 10 43113613 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.010 1.000 1 2004 2004
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: rs377767427
rs377767427
RET
3 0.882 0.120 10 43120114 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs377767442
rs377767442
RET
5 0.827 0.160 10 43121967 missense variant A/G snv 0.010 1.000 1 2016 2016
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